PRRC2A c.5219G>A ;(p.R1740H)

Variant ID: 6-31602967-G-A

NM_004638.3(PRRC2A):c.5219G>A;(p.R1740H)

This variant was identified in 53 publications

View GRCh38 version.




Publications:


Sex-Specific Features of the Correlation between GWAS-Noticeable Polymorphisms and Hypertension in Europeans of Russia.

International Journal Of Molecular Sciences
Ivanova, Tatiana T; Churnosova, Maria M; Abramova, Maria M; Plotnikov, Denis D; Ponomarenko, Irina I; Reshetnikov, Evgeny E; Aristova, Inna I; Sorokina, Inna I; Churnosov, Mikhail M
Publication Date: 2023-04-25

Variant appearance in text: PRRC2A: R1740H; rs1046089
PubMed Link: 37175507
Variant Present in the following documents:
  • ijms-24-07799.pdf
View BVdb publication page



Workflow enabling deepscale immunopeptidome, proteome, ubiquitylome, phosphoproteome, and acetylome analyses of sample-limited tissues.

Nature Communications
Abelin, Jennifer G JG; Bergstrom, Erik J EJ; Rivera, Keith D KD; Taylor, Hannah B HB; Klaeger, Susan S; Xu, Charles C; Verzani, Eva K EK; Jackson White, C C; Woldemichael, Hilina B HB; Virshup, Maya M; Olive, Meagan E ME; Maynard, Myranda M; Vartany, Stephanie A SA; Allen, Joseph D JD; Phulphagar, Kshiti K; Harry Kane, M M; Rachimi, Suzanna S; Mani, D R DR; Gillette, Michael A MA; Satpathy, Shankha S; Clauser, Karl R KR; Udeshi, Namrata D ND; Carr, Steven A SA
Publication Date: 2023-04-03

Variant appearance in text: PRRC2A: R1740H
PubMed Link: 37012232
Variant Present in the following documents:
  • 41467_2023_37547_MOESM12_ESM.xlsx, sheet 2
View BVdb publication page



OpenCustomDB: Integration of Unannotated Open Reading Frames and Genetic Variants to Generate More Comprehensive Customized Protein Databases.

Journal Of Proteome Research
Guilloy, Noé N; Brunet, Marie A MA; Leblanc, Sébastien S; Jacques, Jean-François JF; Hardy, Marie-Pierre MP; Ehx, Grégory G; Lanoix, Joël J; Thibault, Pierre P; Perreault, Claude C; Roucou, Xavier X
Publication Date: 2023-03-24

Variant appearance in text: PRRC2A: Arg1740His
PubMed Link: 36961377
Variant Present in the following documents:
  • pr3c00054_si_002.xlsx, sheet 2
View BVdb publication page



Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.

Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-10-14

Variant appearance in text: PRRC2A: R1740H
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM13_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page



The relationship between genetic variants associated with primary ovarian insufficiency and lipid profile in women recruited from MASHAD cohort study.

Bmc Women'S Health
Mirinezhad, Mohammad Reza MR; Ghazizadeh, Hamideh H; Aghsizadeh, Maliheh M; Zamiri Bidary, Mohammad M; Naghipour, Alireza A; Hasanzadeh, Elahe E; Yaghooti-Khorasani, Mahdiyeh M; Ebrahimi Dabagh, Ali A; Moghadam, Mohammad Reza Shadmand Foumani MRSF; Sheikh Andalibi, Nazanin N; Naseri Far, Zeynab Z; Esmaily, Habibollah H; Ferns, Gordon A GA; Hamzehloei, Tayebeh T; Pasdar, Alireza A; Ghayour-Mobarhan, Majid M
Publication Date: 2022-01-07

Variant appearance in text: rs1046089
PubMed Link: 34996442
Variant Present in the following documents:
  • Main text
  • 12905_2021_Article_1550.pdf
View BVdb publication page



The relationship between genetic variants associated with primary ovarian insufficiency and lipid profile in women recruited from MASHAD cohort study.

Bmc Women'S Health
Mirinezhad, Mohammad Reza MR; Ghazizadeh, Hamideh H; Aghsizadeh, Maliheh M; Zamiri Bidary, Mohammad M; Naghipour, Alireza A; Hasanzadeh, Elahe E; Yaghooti-Khorasani, Mahdiyeh M; Ebrahimi Dabagh, Ali A; Moghadam, Mohammad Reza Shadmand Foumani MRSF; Sheikh Andalibi, Nazanin N; Naseri Far, Zeynab Z; Esmaily, Habibollah H; Ferns, Gordon A GA; Hamzehloei, Tayebeh T; Pasdar, Alireza A; Ghayour-Mobarhan, Majid M
Publication Date: 2022-01-07

Variant appearance in text: rs1046089
PubMed Link: 34996442
Variant Present in the following documents:
  • Main text
  • 12905_2021_Article_1550.pdf
View BVdb publication page



Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology
Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA
Publication Date: 2021

Variant appearance in text: PRRC2A: R1740H; rs1046089
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.

Plos One
Sebate, Boiketlo B; Cuttler, Katelyn K; Cloete, Ruben R; Britz, Marcell M; Christoffels, Alan A; Williams, Monique M; Carr, Jonathan J; Bardien, Soraya S
Publication Date: 2021

Variant appearance in text: PRRC2A: 5219G>A; R1740H; rs1046089
PubMed Link: 33770142
Variant Present in the following documents:
  • pone.0249324.s003.xlsx, sheet 1
  • pone.0249324.s003.xlsx, sheet 2
  • pone.0249324.s003.xlsx, sheet 3
View BVdb publication page



Genetic Determinants of Premature Menopause in A Mashhad Population Cohort.

International Journal Of Fertility & Sterility
Mirinezhad, Mohammad Reza MR; Khosroabadi, Narges N; Rahpeyma, Maliheh M; Khayami, Reza R; Hashemi, Seyyed Reza SR; Ghazizadeh, Hamideh H; Ferns, Gordon A GA; Pasdar, Alireza A; Ghayour-Mobarhan, Majid M; Hamzehloei, Tayebeh T
Publication Date: 2021-01

Variant appearance in text: rs1046089
PubMed Link: 33497044
Variant Present in the following documents:
  • Main text
  • Int-J-Fertil-Steril-15-26.pdf
View BVdb publication page



The Co-existence of ADHD With Autism in Saudi Children: An Analysis Using Next-Generation DNA Sequencing.

Frontiers In Genetics
Bogari, Neda M NM; Al-Allaf, Faisal A FA; Aljohani, Ashwag A; Taher, Mohiuddin M MM; Qutub, Nermeen A NA; Alhelfawi, Suhair S; Alobaidi, Amal A; Alqudah, Derar M DM; Banni, Hussain H; Dairi, Ghida G; Amin, Amr A AA
Publication Date: 2020

Variant appearance in text: PRRC2A: 5219G>A; Arg1740His; rs1046089
PubMed Link: 33384710
Variant Present in the following documents:
  • Main text
View BVdb publication page



Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology
Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF
Publication Date: 2020-04-20

Variant appearance in text: rs1046089
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The role of myoglobin in epithelial cancers: Insights from transcriptomics.

International Journal Of Molecular Medicine
Bicker, Anne A; Nauth, Theresa T; Gerst, Daniela D; Aboouf, Mostafa Ahmed MA; Fandrey, Joachim J; Kristiansen, Glen G; Gorr, Thomas Alexander TA; Hankeln, Thomas T
Publication Date: 2020-02

Variant appearance in text: PRRC2A: 5219G>A; Arg1740His
PubMed Link: 31894249
Variant Present in the following documents:
  • Supplementary_Data2.xlsx, sheet 5
  • Supplementary_Data2.xlsx, sheet 11
  • Supplementary_Data2.xlsx, sheet 12
  • Supplementary_Data2.xlsx, sheet 1
  • Supplementary_Data2.xlsx, sheet 9
  • Supplementary_Data2.xlsx, sheet 2
  • Supplementary_Data2.xlsx, sheet 8
  • Supplementary_Data2.xlsx, sheet 3
  • Supplementary_Data2.xlsx, sheet 10
  • Supplementary_Data2.xlsx, sheet 6
  • Supplementary_Data2.xlsx, sheet 7
  • Supplementary_Data2.xlsx, sheet 4
View BVdb publication page



Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports
Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA
Publication Date: 2019-10-09

Variant appearance in text: PRRC2A: R1740H; rs1046089
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Comprehensive functional annotation of susceptibility SNPs prioritized 10 genes for schizophrenia.

Translational Psychiatry
Niu, Hui-Min HM; Yang, Ping P; Chen, Huan-Huan HH; Hao, Ruo-Han RH; Dong, Shan-Shan SS; Yao, Shi S; Chen, Xiao-Feng XF; Yan, Han H; Zhang, Yu-Jie YJ; Chen, Yi-Xiao YX; Jiang, Feng F; Yang, Tie-Lin TL; Guo, Yan Y
Publication Date: 2019-01-31

Variant appearance in text: rs1046089
PubMed Link: 30705251
Variant Present in the following documents:
View BVdb publication page



Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports
Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS
Publication Date: 2018-12-04

Variant appearance in text: PRRC2A: R1740H; rs1046089
PubMed Link: 30514953
Variant Present in the following documents:
  • 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



X-linked ADGRG2 mutation and obstructive azoospermia in a large Pakistani family.

Scientific Reports
Khan, Muhammad Jaseem MJ; Pollock, Nijole N; Jiang, Huaiyang H; Castro, Carlos C; Nazli, Rubina R; Ahmed, Jawad J; Basit, Sulman S; Rajkovic, Aleksandar A; Yatsenko, Alexander N AN
Publication Date: 2018-11-02

Variant appearance in text: PRRC2A: R1740H; rs1046089
PubMed Link: 30389958
Variant Present in the following documents:
  • 41598_2018_34262_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Fine-mapping of HLA class I and class II genes identified two independent novel variants associated with nasopharyngeal carcinoma susceptibility.

Cancer Medicine
Wang, Tong-Min TM; Zhou, Ting T; He, Yong-Qiao YQ; Xue, Wen-Qiong WQ; Zhang, Jiang-Bo JB; Zheng, Xiao-Hui XH; Li, Xi-Zhao XZ; Zhang, Shao-Dan SD; Zeng, Yi-Xin YX; Jia, Wei-Hua WH
Publication Date: 2018-12

Variant appearance in text: rs1046089
PubMed Link: 30378292
Variant Present in the following documents:
  • CAM4-7-6308-s006.xlsx, sheet 1
View BVdb publication page



Bilateral cataracts as the first manifestation of type 1 diabetes mellitus: A case report.

Medicine
Wu, Juan J; Zeng, Haixia H; Xuan, Rui R; Lei, Shuihong S; Li, Jing J; Lai, Xiaoyang X; Liu, Jianping J
Publication Date: 2018-10

Variant appearance in text: rs1046089
PubMed Link: 30335004
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: PRRC2A: 5219G>A; Arg1740His; rs1046089
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Single nucleotide polymorphisms within HLA region are associated with disease relapse for patients with unrelated cord blood transplantation.

Peerj
Chen, Ding-Ping DP; Chang, Su-Wei SW; Jaing, Tang-Her TH; Wang, Wei-Ting WT; Hus, Fang-Ping FP; Tseng, Ching-Ping CP
Publication Date: 2018

Variant appearance in text: rs1046089
PubMed Link: 30083439
Variant Present in the following documents:
  • Main text
  • peerj-06-5228.pdf
View BVdb publication page



Transcriptome-Wide Association Study Identifies Susceptibility Loci and Genes for Age at Natural Menopause.

Reproductive Sciences (Thousand Oaks, Calif.)
Shi, Jiajun J; Wu, Lang L; Li, Bingshan B; Lu, Yingchang Y; Guo, Xingyi X; Cai, Qiuyin Q; Long, Jirong J; Wen, Wanqing W; Zheng, Wei W; Shu, Xiao-Ou XO
Publication Date: 2019-04

Variant appearance in text: rs1046089
PubMed Link: 29848177
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide haplotype association analysis of primary biliary cholangitis risk in Japanese.

Scientific Reports
Im, Cindy C; Sapkota, Yadav Y; Moon, Wonjong W; Kawashima, Minae M; Nakamura, Minoru M; Tokunaga, Katsushi K; Yasui, Yutaka Y
Publication Date: 2018-05-17

Variant appearance in text: rs1046089
PubMed Link: 29773854
Variant Present in the following documents:
  • 41598_2018_26112_MOESM1_ESM.pdf
View BVdb publication page



Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget
Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH
Publication Date: 2017-11-10

Variant appearance in text: PRRC2A: R1740H; rs1046089
PubMed Link: 29221171
Variant Present in the following documents:
  • oncotarget-08-95841-s002.xlsx, sheet 1
View BVdb publication page



Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation
Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H
Publication Date: 2017

Variant appearance in text: rs1046089
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Interactions within the MHC contribute to the genetic architecture of celiac disease.

Plos One
Goudey, Benjamin B; Abraham, Gad G; Kikianty, Eder E; Wang, Qiao Q; Rawlinson, Dave D; Shi, Fan F; Haviv, Izhak I; Stern, Linda L; Kowalczyk, Adam A; Inouye, Michael M
Publication Date: 2017

Variant appearance in text: rs1046089
PubMed Link: 28282431
Variant Present in the following documents:
  • Main text
View BVdb publication page



Alternate-locus aware variant calling in whole genome sequencing.

Genome Medicine
Jäger, Marten M; Schubach, Max M; Zemojtel, Tomasz T; Reinert, Knut K; Church, Deanna M DM; Robinson, Peter N PN
Publication Date: 2016-12-13

Variant appearance in text: rs1046089
PubMed Link: 27964746
Variant Present in the following documents:
  • 13073_2016_383_MOESM1_ESM.pdf
View BVdb publication page



Age at menarche and age at natural menopause in East Asian women: a genome-wide association study.

Age (Dordrecht, Netherlands)
Shi, Jiajun J; Zhang, Ben B; Choi, Ji-Yeob JY; Gao, Yu-Tang YT; Li, Huaixing H; Lu, Wei W; Long, Jirong J; Kang, Daehee D; Xiang, Yong-Bing YB; Wen, Wanqing W; Park, Sue K SK; Ye, Xingwang X; Noh, Dong-Young DY; Zheng, Ying Y; Wang, Yiqin Y; Chung, Seokang S; Lin, Xu X; Cai, Qiuyin Q; Shu, Xiao-Ou XO
Publication Date: 2016-12

Variant appearance in text: rs1046089
PubMed Link: 27629107
Variant Present in the following documents:
  • Main text
View BVdb publication page



Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.

The Journal Of Pathology
Maguire, Sarah L SL; Peck, Barrie B; Wai, Patty T PT; Campbell, James J; Barker, Holly H; Gulati, Aditi A; Daley, Frances F; Vyse, Simon S; Huang, Paul P; Lord, Christopher J CJ; Farnie, Gillian G; Brennan, Keith K; Natrajan, Rachael R
Publication Date: 2016-11

Variant appearance in text: PRRC2A: R1740H; rs1046089
PubMed Link: 27512948
Variant Present in the following documents:
  • PATH-240-315-s015.xlsx, sheet 1
View BVdb publication page



Mutation Screening of 1,237 Cancer Genes across Six Model Cell Lines of Basal-Like Breast Cancer.

Plos One
Olsson, Eleonor E; Winter, Christof C; George, Anthony A; Chen, Yilun Y; Törngren, Therese T; Bendahl, Pär-Ola PO; Borg, Åke Å; Gruvberger-Saal, Sofia K SK; Saal, Lao H LH
Publication Date: 2015

Variant appearance in text: PRRC2A: R1740H; rs1046089
PubMed Link: 26670335
Variant Present in the following documents:
  • pone.0144528.s006.xlsx, sheet 1
  • pone.0144528.s005.xlsx, sheet 1
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: rs1046089
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair.

Nature Genetics
Day, Felix R FR; Ruth, Katherine S KS; Thompson, Deborah J DJ; Lunetta, Kathryn L KL; Pervjakova, Natalia N; Chasman, Daniel I DI; Stolk, Lisette L; Finucane, Hilary K HK; Sulem, Patrick P; Bulik-Sullivan, Brendan B; Esko, Tõnu T; Johnson, Andrew D AD; Elks, Cathy E CE; Franceschini, Nora N; He, Chunyan C; Altmaier, Elisabeth E; Brody, Jennifer A JA; Franke, Lude L LL; Huffman, Jennifer E JE; Keller, Margaux F MF; McArdle, Patrick F PF; Nutile, Teresa T; Porcu, Eleonora E; Robino, Antonietta A; Rose, Lynda M LM; Schick, Ursula M UM; Smith, Jennifer A JA; Teumer, Alexander A; Traglia, Michela M; Vuckovic, Dragana D; Yao, Jie J; Zhao, Wei W; Albrecht, Eva E; Amin, Najaf N; Corre, Tanguy T; Hottenga, Jouke-Jan JJ; Mangino, Massimo M; Smith, Albert V AV; Tanaka, Toshiko T; Abecasis, Goncalo G; Andrulis, Irene L IL; Anton-Culver, Hoda H; Antoniou, Antonis C AC; Arndt, Volker V; Arnold, Alice M AM; Barbieri, Caterina C; Beckmann, Matthias W MW; Beeghly-Fadiel, Alicia A; Benitez, Javier J; Bernstein, Leslie L; Bielinski, Suzette J SJ; Blomqvist, Carl C; Boerwinkle, Eric E; Bogdanova, Natalia V NV; Bojesen, Stig E SE; Bolla, Manjeet K MK; Borresen-Dale, Anne-Lise AL; Boutin, Thibaud S TS; Brauch, Hiltrud H; Brenner, Hermann H; Brüning, Thomas T; Burwinkel, Barbara B; Campbell, Archie A; Campbell, Harry H; Chanock, Stephen J SJ; Chapman, J Ross JR; Chen, Yii-Der Ida YI; Chenevix-Trench, Georgia G; Couch, Fergus J FJ; Coviello, Andrea D AD; Cox, Angela A; Czene, Kamila K; Darabi, Hatef H; De Vivo, Immaculata I; Demerath, Ellen W EW; Dennis, Joe J; Devilee, Peter P; Dörk, Thilo T; Dos-Santos-Silva, Isabel I; Dunning, Alison M AM; Eicher, John D JD; Fasching, Peter A PA; Faul, Jessica D JD; Figueroa, Jonine J; Flesch-Janys, Dieter D; Gandin, Ilaria I; Garcia, Melissa E ME; García-Closas, Montserrat M; Giles, Graham G GG; Girotto, Giorgia G GG; Goldberg, Mark S MS; González-Neira, Anna A; Goodarzi, Mark O MO; Grove, Megan L ML; Gudbjartsson, Daniel F DF; Guénel, Pascal P; Guo, Xiuqing X; Haiman, Christopher A CA; Hall, Per P; Hamann, Ute U; Henderson, Brian E BE; Hocking, Lynne J LJ; Hofman, Albert A; Homuth, Georg G; Hooning, Maartje J MJ; Hopper, John L JL; Hu, Frank B FB; Huang, Jinyan J; Humphreys, Keith K; Hunter, David J DJ; Jakubowska, Anna A; Jones, Samuel E SE; Kabisch, Maria M; Karasik, David D; Knight, Julia A JA; Kolcic, Ivana I; Kooperberg, Charles C; Kosma, Veli-Matti VM; Kriebel, Jennifer J; Kristensen, Vessela V; Lambrechts, Diether D; Langenberg, Claudia C; Li, Jingmei J; Li, Xin X; Lindström, Sara S; Liu, Yongmei Y; Luan, Jian'an J; Lubinski, Jan J; Mägi, Reedik R; Mannermaa, Arto A; Manz, Judith J; Margolin, Sara S; Marten, Jonathan J; Martin, Nicholas G NG; Masciullo, Corrado C; Meindl, Alfons A; Michailidou, Kyriaki K; Mihailov, Evelin E; Milani, Lili L; Milne, Roger L RL; Müller-Nurasyid, Martina M; Nalls, Michael M; Neale, Ben M BM; Nevanlinna, Heli H; Neven, Patrick P; Newman, Anne B AB; Nordestgaard, Børge G BG; Olson, Janet E JE; Padmanabhan, Sandosh S; Peterlongo, Paolo P; Peters, Ulrike U; Petersmann, Astrid A; Peto, Julian J; Pharoah, Paul D P PDP; Pirastu, Nicola N NN; Pirie, Ailith A; Pistis, Giorgio G; Polasek, Ozren O; Porteous, David D; Psaty, Bruce M BM; Pylkäs, Katri K; Radice, Paolo P; Raffel, Leslie J LJ; Rivadeneira, Fernando F; Rudan, Igor I; Rudolph, Anja A; Ruggiero, Daniela D; Sala, Cinzia F CF; Sanna, Serena S; Sawyer, Elinor J EJ; Schlessinger, David D; Schmidt, Marjanka K MK; Schmidt, Frank F; Schmutzler, Rita K RK; Schoemaker, Minouk J MJ; Scott, Robert A RA; Seynaeve, Caroline M CM; Simard, Jacques J; Sorice, Rossella R; Southey, Melissa C MC; Stöckl, Doris D; Strauch, Konstantin K; Swerdlow, Anthony A; Taylor, Kent D KD; Thorsteinsdottir, Unnur U; Toland, Amanda E AE; Tomlinson, Ian I; Truong, Thérèse T; Tryggvadottir, Laufey L; Turner, Stephen T ST; Vozzi, Diego D; Wang, Qin Q; Wellons, Melissa M; Willemsen, Gonneke G; Wilson, James F JF; Winqvist, Robert R; Wolffenbuttel, Bruce B H R BBHR; Wright, Alan F AF; Yannoukakos, Drakoulis D; Zemunik, Tatijana T; Zheng, Wei W; Zygmunt, Marek M; Bergmann, Sven S; Boomsma, Dorret I DI; Buring, Julie E JE; Ferrucci, Luigi L; Montgomery, Grant W GW; Gudnason, Vilmundur V; Spector, Tim D TD; van Duijn, Cornelia M CM; Alizadeh, Behrooz Z BZ; Ciullo, Marina M; Crisponi, Laura L; Easton, Douglas F DF; Gasparini, Paolo P PP; Gieger, Christian C; Harris, Tamara B TB; Hayward, Caroline C; Kardia, Sharon L R SLR; Kraft, Peter P; McKnight, Barbara B; Metspalu, Andres A; Morrison, Alanna C AC; Reiner, Alex P AP; Ridker, Paul M PM; Rotter, Jerome I JI; Toniolo, Daniela D; Uitterlinden, André G AG; Ulivi, Sheila S; Völzke, Henry H; Wareham, Nicholas J NJ; Weir, David R DR; Yerges-Armstrong, Laura M LM; , ; , ; , ; , ; , ; , ; Price, Alkes L AL; Stefansson, Kari K; Visser, Jenny A JA; Ong, Ken K KK; Chang-Claude, Jenny J; Murabito, Joanne M JM; Perry, John R B JRB; Murray, Anna A
Publication Date: 2015-11

Variant appearance in text: rs1046089
PubMed Link: 26414677
Variant Present in the following documents:
  • Main text
View BVdb publication page



GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics
Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J
Publication Date: 2015-07-25

Variant appearance in text: PRRC2A: R1740H
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 1
View BVdb publication page



Whole genome sequencing of an ethnic Pathan (Pakhtun) from the north-west of Pakistan.

Bmc Genomics
Ilyas, Muhammad M; Kim, Jong-Soo JS; Cooper, Jesse J; Shin, Young-Ah YA; Kim, Hak-Min HM; Cho, Yun Sung YS; Hwang, Seungwoo S; Kim, Hyunho H; Moon, Jaewoo J; Chung, Oksung O; Jun, JeHoon J; Rastogi, Achal A; Song, Sanghoon S; Ko, Junsu J; Manica, Andrea A; Rahman, Ziaur Z; Husnain, Tayyab T; Bhak, Jong J
Publication Date: 2015-03-12

Variant appearance in text: PRRC2A: R1740H; rs1046089
PubMed Link: 25887915
Variant Present in the following documents:
  • 12864_2015_1290_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Scientific Reports
Steinberg, Karyn Meltz KM; Yu, Bing B; Koboldt, Daniel C DC; Mardis, Elaine R ER; Pamphlett, Roger R
Publication Date: 2015-03-16

Variant appearance in text: rs1046089
PubMed Link: 25773295
Variant Present in the following documents:
  • srep09124-s3.xls, sheet 1
View BVdb publication page



Whole-genome sequencing of the world's oldest people.

Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014

Variant appearance in text: PRRC2A: R1740H; rs1046089
PubMed Link: 25390934
Variant Present in the following documents:
  • pone.0112430.s004.xlsx, sheet 1
View BVdb publication page



Host genetics and immune control of HIV-1 infection: fine mapping for the extended human MHC region in an African cohort.

Genes And Immunity
Prentice, H A HA; Pajewski, N M NM; He, D D; Zhang, K K; Brown, E E EE; Kilembe, W W; Allen, S S; Hunter, E E; Kaslow, R A RA; Tang, J J
Publication Date: 2014

Variant appearance in text: rs1046089
PubMed Link: 24784026
Variant Present in the following documents:
  • NIHMS580846-supplement-1.xlsx, sheet 3
  • NIHMS580846-supplement-1.xlsx, sheet 2
View BVdb publication page



Heritability and genomics of gene expression in peripheral blood.

Nature Genetics
Wright, Fred A FA; Sullivan, Patrick F PF; Brooks, Andrew I AI; Zou, Fei F; Sun, Wei W; Xia, Kai K; Madar, Vered V; Jansen, Rick R; Chung, Wonil W; Zhou, Yi-Hui YH; Abdellaoui, Abdel A; Batista, Sandra S; Butler, Casey C; Chen, Guanhua G; Chen, Ting-Huei TH; D'Ambrosio, David D; Gallins, Paul P; Ha, Min Jin MJ; Hottenga, Jouke Jan JJ; Huang, Shunping S; Kattenberg, Mathijs M; Kochar, Jaspreet J; Middeldorp, Christel M CM; Qu, Ani A; Shabalin, Andrey A; Tischfield, Jay J; Todd, Laura L; Tzeng, Jung-Ying JY; van Grootheest, Gerard G; Vink, Jacqueline M JM; Wang, Qi Q; Wang, Wei W; Wang, Weibo W; Willemsen, Gonneke G; Smit, Johannes H JH; de Geus, Eco J EJ; Yin, Zhaoyu Z; Penninx, Brenda W J H BW; Boomsma, Dorret I DI
Publication Date: 2014-05

Variant appearance in text: rs1046089
PubMed Link: 24728292
Variant Present in the following documents:
  • NIHMS576016-supplement-1.pdf
View BVdb publication page



Meta-analysis of loci associated with age at natural menopause in African-American women.

Human Molecular Genetics
Chen, Christina T L CT; Liu, Ching-Ti CT; Chen, Gary K GK; Andrews, Jeanette S JS; Arnold, Alice M AM; Dreyfus, Jill J; Franceschini, Nora N; Garcia, Melissa E ME; Kerr, Kathleen F KF; Li, Guo G; Lohman, Kurt K KK; Musani, Solomon K SK; Nalls, Michael A MA; Raffel, Leslie J LJ; Smith, Jennifer J; Ambrosone, Christine B CB; Bandera, Elisa V EV; Bernstein, Leslie L; Britton, Angela A; Brzyski, Robert G RG; Cappola, Anne A; Carlson, Christopher S CS; Couper, David D; Deming, Sandra L SL; Goodarzi, Mark O MO; Heiss, Gerardo G; John, Esther M EM; Lu, Xiaoning X; Le Marchand, Loic L; Marciante, Kristin K; Mcknight, Barbara B; Millikan, Robert R; Nock, Nora L NL; Olshan, Andrew F AF; Press, Michael F MF; Vaiyda, Dhananjay D; Woods, Nancy F NF; Taylor, Herman A HA; Zhao, Wei W; Zheng, Wei W; Evans, Michele K MK; Harris, Tamara B TB; Henderson, Brian E BE; Kardia, Sharon L R SL; Kooperberg, Charles C; Liu, Yongmei Y; Mosley, Thomas H TH; Psaty, Bruce B; Wellons, Melissa M; Windham, Beverly G BG; Zonderman, Alan B AB; Cupples, L Adrienne LA; Demerath, Ellen W EW; Haiman, Christopher C; Murabito, Joanne M JM; Rajkovic, Aleksandar A
Publication Date: 2014-06-15

Variant appearance in text: rs1046089
PubMed Link: 24493794
Variant Present in the following documents:
  • Main text
View BVdb publication page



Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio
Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M
Publication Date: 2014

Variant appearance in text: PRRC2A: R1740H; rs1046089
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
  • mmc5.xlsx, sheet 3
View BVdb publication page



DNA mismatch repair gene MSH6 implicated in determining age at natural menopause.

Human Molecular Genetics
Perry, John R B JR; Hsu, Yi-Hsiang YH; Chasman, Daniel I DI; Johnson, Andrew D AD; Elks, Cathy C; Albrecht, Eva E; Andrulis, Irene L IL; Beesley, Jonathan J; Berenson, Gerald S GS; Bergmann, Sven S; Bojesen, Stig E SE; Bolla, Manjeet K MK; Brown, Judith J; Buring, Julie E JE; Campbell, Harry H; Chang-Claude, Jenny J; Chenevix-Trench, Georgia G; Corre, Tanguy T; Couch, Fergus J FJ; Cox, Angela A; Czene, Kamila K; D'adamo, Adamo Pio AP; Davies, Gail G; Deary, Ian J IJ; Dennis, Joe J; Easton, Douglas F DF; Engelhardt, Ellen G EG; Eriksson, Johan G JG; Esko, Tõnu T; Fasching, Peter A PA; Figueroa, Jonine D JD; Flyger, Henrik H; Fraser, Abigail A; Garcia-Closas, Montse M; Gasparini, Paolo P; Gieger, Christian C; Giles, Graham G; Guenel, Pascal P; Hägg, Sara S; Hall, Per P; Hayward, Caroline C; Hopper, John J; Ingelsson, Erik E; , ; Kardia, Sharon L R SL; Kasiman, Katherine K; Knight, Julia A JA; Lahti, Jari J; Lawlor, Debbie A DA; Magnusson, Patrik K E PK; Margolin, Sara S; Marsh, Julie A JA; Metspalu, Andres A; Olson, Janet E JE; Pennell, Craig E CE; Polasek, Ozren O; Rahman, Iffat I; Ridker, Paul M PM; Robino, Antonietta A; Rudan, Igor I; Rudolph, Anja A; Salumets, Andres A; Schmidt, Marjanka K MK; Schoemaker, Minouk J MJ; Smith, Erin N EN; Smith, Jennifer A JA; Southey, Melissa M; Stöckl, Doris D; Swerdlow, Anthony J AJ; Thompson, Deborah J DJ; Truong, Therese T; Ulivi, Sheila S; Waldenberger, Melanie M; Wang, Qin Q; Wild, Sarah S; Wilson, James F JF; Wright, Alan F AF; Zgaga, Lina L; , ; Ong, Ken K KK; Murabito, Joanne M JM; Karasik, David D; Murray, Anna A
Publication Date: 2014-05-01

Variant appearance in text: rs1046089
PubMed Link: 24357391
Variant Present in the following documents:
  • Main text
  • ddt620.pdf
View BVdb publication page



Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science
Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K
Publication Date: 2014-02

Variant appearance in text: BAT2: R1740H; rs1046089
PubMed Link: 24219164
Variant Present in the following documents:
  • cas0105-0202-SD2.xlsx, sheet 1
View BVdb publication page



Genomic markers of ovarian reserve.

Seminars In Reproductive Medicine
Wood, Michelle A MA; Rajkovic, Aleksandar A
Publication Date: 2013-11

Variant appearance in text: PRRC2A: R1740H; rs1046089
PubMed Link: 24101221
Variant Present in the following documents:
  • Main text
View BVdb publication page



A comprehensive family-based replication study of schizophrenia genes.

Jama Psychiatry
Aberg, Karolina A KA; Liu, Youfang Y; Bukszár, Jozsef J; McClay, Joseph L JL; Khachane, Amit N AN; Andreassen, Ole A OA; Blackwood, Douglas D; Corvin, Aiden A; Djurovic, Srdjan S; Gurling, Hugh H; Ophoff, Roel R; Pato, Carlos N CN; Pato, Michele T MT; Riley, Brien B; Webb, Todd T; Kendler, Kenneth K; O'Donovan, Mick M; Craddock, Nick N; Kirov, George G; Owen, Mike M; Rujescu, Dan D; St Clair, David D; Werge, Thomas T; Hultman, Christina M CM; Delisi, Lynn E LE; Sullivan, Patrick P; van den Oord, Edwin J EJ
Publication Date: 2013-06

Variant appearance in text: rs1046089
PubMed Link: 23894747
Variant Present in the following documents:
  • Main text
View BVdb publication page



Evaluating GWAS-identified SNPs for age at natural menopause among chinese women.

Plos One
Shen, Chong C; Delahanty, Ryan J RJ; Gao, Yu-Tang YT; Lu, Wei W; Xiang, Yong-Bing YB; Zheng, Ying Y; Cai, Qiuyin Q; Zheng, Wei W; Shu, Xiao-Ou XO; Long, Jirong J
Publication Date: 2013

Variant appearance in text: rs1046089
PubMed Link: 23536822
Variant Present in the following documents:
  • Main text
View BVdb publication page



Deficiency of schnurri-2, an MHC enhancer binding protein, induces mild chronic inflammation in the brain and confers molecular, neuronal, and behavioral phenotypes related to schizophrenia.

Neuropsychopharmacology : Official Publication Of The American College Of Neuropsychopharmacology
Takao, Keizo K; Kobayashi, Katsunori K; Hagihara, Hideo H; Ohira, Koji K; Shoji, Hirotaka H; Hattori, Satoko S; Koshimizu, Hisatsugu H; Umemori, Juzoh J; Toyama, Keiko K; Nakamura, Hironori K HK; Kuroiwa, Mahomi M; Maeda, Jun J; Atsuzawa, Kimie K; Esaki, Kayoko K; Yamaguchi, Shun S; Furuya, Shigeki S; Takagi, Tsuyoshi T; Walton, Noah M NM; Hayashi, Nobuhiro N; Suzuki, Hidenori H; Higuchi, Makoto M; Usuda, Nobuteru N; Suhara, Tetsuya T; Nishi, Akinori A; Matsumoto, Mitsuyuki M; Ishii, Shunsuke S; Miyakawa, Tsuyoshi T
Publication Date: 2013-07

Variant appearance in text: rs1046089
PubMed Link: 23389689
Variant Present in the following documents:
  • npp201338x10.pdf
View BVdb publication page



Reproductive aging-associated common genetic variants and the risk of breast cancer.

Breast Cancer Research : Bcr
He, Chunyan C; Chasman, Daniel I DI; Dreyfus, Jill J; Hwang, Shih-Jen SJ; Ruiter, Rikje R; Sanna, Serena S; Buring, Julie E JE; Fernández-Rhodes, Lindsay L; Franceschini, Nora N; Hankinson, Susan E SE; Hofman, Albert A; Lunetta, Kathryn L KL; Palmieri, Giuseppe G; Porcu, Eleonora E; Rivadeneira, Fernando F; Rose, Lynda M LM; Splansky, Greta L GL; Stolk, Lisette L; Uitterlinden, André G AG; Chanock, Stephen J SJ; Crisponi, Laura L; Demerath, Ellen W EW; Murabito, Joanne M JM; Ridker, Paul M PM; Stricker, Bruno H BH; Hunter, David J DJ
Publication Date: 2012-03-20

Variant appearance in text: rs1046089
PubMed Link: 22433456
Variant Present in the following documents:
  • Main text
View BVdb publication page



Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.

Nature Genetics
Stolk, Lisette L; Perry, John R B JR; Chasman, Daniel I DI; He, Chunyan C; Mangino, Massimo M; Sulem, Patrick P; Barbalic, Maja M; Broer, Linda L; Byrne, Enda M EM; Ernst, Florian F; Esko, Tõnu T; Franceschini, Nora N; Gudbjartsson, Daniel F DF; Hottenga, Jouke-Jan JJ; Kraft, Peter P; McArdle, Patrick F PF; Porcu, Eleonora E; Shin, So-Youn SY; Smith, Albert V AV; van Wingerden, Sophie S; Zhai, Guangju G; Zhuang, Wei V WV; Albrecht, Eva E; Alizadeh, Behrooz Z BZ; Aspelund, Thor T; Bandinelli, Stefania S; Lauc, Lovorka Barac LB; Beckmann, Jacques S JS; Boban, Mladen M; Boerwinkle, Eric E; Broekmans, Frank J FJ; Burri, Andrea A; Campbell, Harry H; Chanock, Stephen J SJ; Chen, Constance C; Cornelis, Marilyn C MC; Corre, Tanguy T; Coviello, Andrea D AD; d'Adamo, Pio P; Davies, Gail G; de Faire, Ulf U; de Geus, Eco J C EJ; Deary, Ian J IJ; Dedoussis, George V Z GV; Deloukas, Panagiotis P; Ebrahim, Shah S; Eiriksdottir, Gudny G; Emilsson, Valur V; Eriksson, Johan G JG; Fauser, Bart C J M BC; Ferreli, Liana L; Ferrucci, Luigi L; Fischer, Krista K; Folsom, Aaron R AR; Garcia, Melissa E ME; Gasparini, Paolo P; Gieger, Christian C; Glazer, Nicole N; Grobbee, Diederick E DE; Hall, Per P; Haller, Toomas T; Hankinson, Susan E SE; Hass, Merli M; Hayward, Caroline C; Heath, Andrew C AC; Hofman, Albert A; Ingelsson, Erik E; Janssens, A Cecile J W AC; Johnson, Andrew D AD; Karasik, David D; Kardia, Sharon L R SL; Keyzer, Jules J; Kiel, Douglas P DP; Kolcic, Ivana I; Kutalik, Zoltán Z; Lahti, Jari J; Lai, Sandra S; Laisk, Triin T; Laven, Joop S E JS; Lawlor, Debbie A DA; Liu, Jianjun J; Lopez, Lorna M LM; Louwers, Yvonne V YV; Magnusson, Patrik K E PK; Marongiu, Mara M; Martin, Nicholas G NG; Klaric, Irena Martinovic IM; Masciullo, Corrado C; McKnight, Barbara B; Medland, Sarah E SE; Melzer, David D; Mooser, Vincent V; Navarro, Pau P; Newman, Anne B AB; Nyholt, Dale R DR; Onland-Moret, N Charlotte NC; Palotie, Aarno A; Paré, Guillaume G; Parker, Alex N AN; Pedersen, Nancy L NL; Peeters, Petra H M PH; Pistis, Giorgio G; Plump, Andrew S AS; Polasek, Ozren O; Pop, Victor J M VJ; Psaty, Bruce M BM; Räikkönen, Katri K; Rehnberg, Emil E; Rotter, Jerome I JI; Rudan, Igor I; Sala, Cinzia C; Salumets, Andres A; Scuteri, Angelo A; Singleton, Andrew A; Smith, Jennifer A JA; Snieder, Harold H; Soranzo, Nicole N; Stacey, Simon N SN; Starr, John M JM; Stathopoulou, Maria G MG; Stirrups, Kathleen K; Stolk, Ronald P RP; Styrkarsdottir, Unnur U; Sun, Yan V YV; Tenesa, Albert A; Thorand, Barbara B; Toniolo, Daniela D; Tryggvadottir, Laufey L; Tsui, Kim K; Ulivi, Sheila S; van Dam, Rob M RM; van der Schouw, Yvonne T YT; van Gils, Carla H CH; van Nierop, Peter P; Vink, Jacqueline M JM; Visscher, Peter M PM; Voorhuis, Marlies M; Waeber, Gérard G; Wallaschofski, Henri H; Wichmann, H Erich HE; Widen, Elisabeth E; Wijnands-van Gent, Colette J M CJ; Willemsen, Gonneke G; Wilson, James F JF; Wolffenbuttel, Bruce H R BH; Wright, Alan F AF; Yerges-Armstrong, Laura M LM; Zemunik, Tatijana T; Zgaga, Lina L; Zillikens, M Carola MC; Zygmunt, Marek M; , ; Arnold, Alice M AM; Boomsma, Dorret I DI; Buring, Julie E JE; Crisponi, Laura L; Demerath, Ellen W EW; Gudnason, Vilmundur V; Harris, Tamara B TB; Hu, Frank B FB; Hunter, David J DJ; Launer, Lenore J LJ; Metspalu, Andres A; Montgomery, Grant W GW; Oostra, Ben A BA; Ridker, Paul M PM; Sanna, Serena S; Schlessinger, David D; Spector, Tim D TD; Stefansson, Kari K; Streeten, Elizabeth A EA; Thorsteinsdottir, Unnur U; Uda, Manuela M; Uitterlinden, André G AG; van Duijn, Cornelia M CM; Völzke, Henry H; Murray, Anna A; Murabito, Joanne M JM; Visser, Jenny A JA; Lunetta, Kathryn L KL
Publication Date: 2012-01-22

Variant appearance in text: rs1046089
PubMed Link: 22267201
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.

Nature
, ; Ehret, Georg B GB; Munroe, Patricia B PB; Rice, Kenneth M KM; Bochud, Murielle M; Johnson, Andrew D AD; Chasman, Daniel I DI; Smith, Albert V AV; Tobin, Martin D MD; Verwoert, Germaine C GC; Hwang, Shih-Jen SJ; Pihur, Vasyl V; Vollenweider, Peter P; O'Reilly, Paul F PF; Amin, Najaf N; Bragg-Gresham, Jennifer L JL; Teumer, Alexander A; Glazer, Nicole L NL; Launer, Lenore L; Zhao, Jing Hua JH; Aulchenko, Yurii Y; Heath, Simon S; Sõber, Siim S; Parsa, Afshin A; Luan, Jian'an J; Arora, Pankaj P; Dehghan, Abbas A; Zhang, Feng F; Lucas, Gavin G; Hicks, Andrew A AA; Jackson, Anne U AU; Peden, John F JF; Tanaka, Toshiko T; Wild, Sarah H SH; Rudan, Igor I; Igl, Wilmar W; Milaneschi, Yuri Y; Parker, Alex N AN; Fava, Cristiano C; Chambers, John C JC; Fox, Ervin R ER; Kumari, Meena M; Go, Min Jin MJ; van der Harst, Pim P; Kao, Wen Hong Linda WH; Sjögren, Marketa M; Vinay, D G DG; Alexander, Myriam M; Tabara, Yasuharu Y; Shaw-Hawkins, Sue S; Whincup, Peter H PH; Liu, Yongmei Y; Shi, Gang G; Kuusisto, Johanna J; Tayo, Bamidele B; Seielstad, Mark M; Sim, Xueling X; Nguyen, Khanh-Dung Hoang KD; Lehtimäki, Terho T; Matullo, Giuseppe G; Wu, Ying Y; Gaunt, Tom R TR; Onland-Moret, N Charlotte NC; Cooper, Matthew N MN; Platou, Carl G P CG; Org, Elin E; Hardy, Rebecca R; Dahgam, Santosh S; Palmen, Jutta J; Vitart, Veronique V; Braund, Peter S PS; Kuznetsova, Tatiana T; Uiterwaal, Cuno S P M CS; Adeyemo, Adebowale A; Palmas, Walter W; Campbell, Harry H; Ludwig, Barbara B; Tomaszewski, Maciej M; Tzoulaki, Ioanna I; Palmer, Nicholette D ND; , ; , ; , ; , ; , ; Aspelund, Thor T; Garcia, Melissa M; Chang, Yen-Pei C YP; O'Connell, Jeffrey R JR; Steinle, Nanette I NI; Grobbee, Diederick E DE; Arking, Dan E DE; Kardia, Sharon L SL; Morrison, Alanna C AC; Hernandez, Dena D; Najjar, Samer S; McArdle, Wendy L WL; Hadley, David D; Brown, Morris J MJ; Connell, John M JM; Hingorani, Aroon D AD; Day, Ian N M IN; Lawlor, Debbie A DA; Beilby, John P JP; Lawrence, Robert W RW; Clarke, Robert R; Hopewell, Jemma C JC; Ongen, Halit H; Dreisbach, Albert W AW; Li, Yali Y; Young, J Hunter JH; Bis, Joshua C JC; Kähönen, Mika M; Viikari, Jorma J; Adair, Linda S LS; Lee, Nanette R NR; Chen, Ming-Huei MH; Olden, Matthias M; Pattaro, Cristian C; Bolton, Judith A Hoffman JA; Köttgen, Anna A; Bergmann, Sven S; Mooser, Vincent V; Chaturvedi, Nish N; Frayling, Timothy M TM; Islam, Muhammad M; Jafar, Tazeen H TH; Erdmann, Jeanette J; Kulkarni, Smita R SR; Bornstein, Stefan R SR; Grässler, Jürgen J; Groop, Leif L; Voight, Benjamin F BF; Kettunen, Johannes J; Howard, Philip P; Taylor, Andrew A; Guarrera, Simonetta S; Ricceri, Fulvio F; Emilsson, Valur V; Plump, Andrew A; Barroso, Inês I; Khaw, Kay-Tee KT; Weder, Alan B AB; Hunt, Steven C SC; Sun, Yan V YV; Bergman, Richard N RN; Collins, Francis S FS; Bonnycastle, Lori L LL; Scott, Laura J LJ; Stringham, Heather M HM; Peltonen, Leena L; Perola, Markus M; Vartiainen, Erkki E; Brand, Stefan-Martin SM; Staessen, Jan A JA; Wang, Thomas J TJ; Burton, Paul R PR; Soler Artigas, Maria M; Dong, Yanbin Y; Snieder, Harold H; Wang, Xiaoling X; Zhu, Haidong H; Lohman, Kurt K KK; Rudock, Megan E ME; Heckbert, Susan R SR; Smith, Nicholas L NL; Wiggins, Kerri L KL; Doumatey, Ayo A; Shriner, Daniel D; Veldre, Gudrun G; Viigimaa, Margus M; Kinra, Sanjay S; Prabhakaran, Dorairaj D; Tripathy, Vikal V; Langefeld, Carl D CD; Rosengren, Annika A; Thelle, Dag S DS; Corsi, Anna Maria AM; Singleton, Andrew A; Forrester, Terrence T; Hilton, Gina G; McKenzie, Colin A CA; Salako, Tunde T; Iwai, Naoharu N; Kita, Yoshikuni Y; Ogihara, Toshio T; Ohkubo, Takayoshi T; Okamura, Tomonori T; Ueshima, Hirotsugu H; Umemura, Satoshi S; Eyheramendy, Susana S; Meitinger, Thomas T; Wichmann, H-Erich HE; Cho, Yoon Shin YS; Kim, Hyung-Lae HL; Lee, Jong-Young JY; Scott, James J; Sehmi, Joban S JS; Zhang, Weihua W; Hedblad, Bo B; Nilsson, Peter P; Smith, George Davey GD; Wong, Andrew A; Narisu, Narisu N; Stančáková, Alena A; Raffel, Leslie J LJ; Yao, Jie J; Kathiresan, Sekar S; O'Donnell, Christopher J CJ; Schwartz, Stephen M SM; Ikram, M Arfan MA; Longstreth, W T WT; Mosley, Thomas H TH; Seshadri, Sudha S; Shrine, Nick R G NR; Wain, Louise V LV; Morken, Mario A MA; Swift, Amy J AJ; Laitinen, Jaana J; Prokopenko, Inga I; Zitting, Paavo P; Cooper, Jackie A JA; Humphries, Steve E SE; Danesh, John J; Rasheed, Asif A; Goel, Anuj A; Hamsten, Anders A; Watkins, Hugh H; Bakker, Stephan J L SJ; van Gilst, Wiek H WH; Janipalli, Charles S CS; Mani, K Radha KR; Yajnik, Chittaranjan S CS; Hofman, Albert A; Mattace-Raso, Francesco U S FU; Oostra, Ben A BA; Demirkan, Ayse A; Isaacs, Aaron A; Rivadeneira, Fernando F; Lakatta, Edward G EG; Orru, Marco M; Scuteri, Angelo A; Ala-Korpela, Mika M; Kangas, Antti J AJ; Lyytikäinen, Leo-Pekka LP; Soininen, Pasi P; Tukiainen, Taru T; Würtz, Peter P; Ong, Rick Twee-Hee RT; Dörr, Marcus M; Kroemer, Heyo K HK; Völker, Uwe U; Völzke, Henry H; Galan, Pilar P; Hercberg, Serge S; Lathrop, Mark M; Zelenika, Diana D; Deloukas, Panos P; Mangino, Massimo M; Spector, Tim D TD; Zhai, Guangju G; Meschia, James F JF; Nalls, Michael A MA; Sharma, Pankaj P; Terzic, Janos J; Kumar, M V Kranthi MV; Denniff, Matthew M; Zukowska-Szczechowska, Ewa E; Wagenknecht, Lynne E LE; Fowkes, F Gerald R FG; Charchar, Fadi J FJ; Schwarz, Peter E H PE; Hayward, Caroline C; Guo, Xiuqing X; Rotimi, Charles C; Bots, Michiel L ML; Brand, Eva E; Samani, Nilesh J NJ; Polasek, Ozren O; Talmud, Philippa J PJ; Nyberg, Fredrik F; Kuh, Diana D; Laan, Maris M; Hveem, Kristian K; Palmer, Lyle J LJ; van der Schouw, Yvonne T YT; Casas, Juan P JP; Mohlke, Karen L KL; Vineis, Paolo P; Raitakari, Olli O; Ganesh, Santhi K SK; Wong, Tien Y TY; Tai, E Shyong ES; Cooper, Richard S RS; Laakso, Markku M; Rao, Dabeeru C DC; Harris, Tamara B TB; Morris, Richard W RW; Dominiczak, Anna F AF; Kivimaki, Mika M; Marmot, Michael G MG; Miki, Tetsuro T; Saleheen, Danish D; Chandak, Giriraj R GR; Coresh, Josef J; Navis, Gerjan G; Salomaa, Veikko V; Han, Bok-Ghee BG; Zhu, Xiaofeng X; Kooner, Jaspal S JS; Melander, Olle O; Ridker, Paul M PM; Bandinelli, Stefania S; Gyllensten, Ulf B UB; Wright, Alan F AF; Wilson, James F JF; Ferrucci, Luigi L; Farrall, Martin M; Tuomilehto, Jaakko J; Pramstaller, Peter P PP; Elosua, Roberto R; Soranzo, Nicole N; Sijbrands, Eric J G EJ; Altshuler, David D; Loos, Ruth J F RJ; Shuldiner, Alan R AR; Gieger, Christian C; Meneton, Pierre P; Uitterlinden, Andre G AG; Wareham, Nicholas J NJ; Gudnason, Vilmundur V; Rotter, Jerome I JI; Rettig, Rainer R; Uda, Manuela M; Strachan, David P DP; Witteman, Jacqueline C M JC; Hartikainen, Anna-Liisa AL; Beckmann, Jacques S JS; Boerwinkle, Eric E; Vasan, Ramachandran S RS; Boehnke, Michael M; Larson, Martin G MG; Järvelin, Marjo-Riitta MR; Psaty, Bruce M BM; Abecasis, Gonçalo R GR; Chakravarti, Aravinda A; Elliott, Paul P; van Duijn, Cornelia M CM; Newton-Cheh, Christopher C; Levy, Daniel D; Caulfield, Mark J MJ; Johnson, Toby T
Publication Date: 2011-09-11

Variant appearance in text: rs1046089
PubMed Link: 21909115
Variant Present in the following documents:
  • NIHMS314865-supplement-2.xls, sheet 7
  • NIHMS314865-supplement-3.pdf
View BVdb publication page



MHC fine mapping of human type 1 diabetes using the T1DGC data.

Diabetes, Obesity & Metabolism
He, C C; Hamon, S S; Li, D D; Barral-Rodriguez, S S; Ott, J J; ,
Publication Date: 2009-02

Variant appearance in text: rs1046089
PubMed Link: 19143815
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: BAT2: R1740H; rs1046089
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 3
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A genetic association study in the Gambia using tagging polymorphisms in the major histocompatibility complex class III region implicates a HLA-B associated transcript 2 polymorphism in severe malaria susceptibility.

Human Genetics
Diakite, Mahamadou M; Clark, Taane G TG; Auburn, Sarah S; Campino, Susana S; Fry, Andrew E AE; Green, Angela A; Morris, Andrew P AP; Richardson, Anna A; Jallow, Muminatou M; Sisay-Joof, Fatou F; Pinder, Margaret M; Kwiatkowski, Dominic P DP; Rockett, Kirk A KA
Publication Date: 2009-02

Variant appearance in text: rs1046089
PubMed Link: 19039607
Variant Present in the following documents:
  • Main text
View BVdb publication page