POU5F1 c.405+1540T>C

Variant ID: 6-31136453-A-G

NM_002701.4(POU5F1):c.405+1540T>C

This variant was identified in 31 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs3130501
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



Heterogeneity of immune control in chronic hepatitis B virus infection: Clinical implications on immunity with interferon-α treatment and retreatment.

World Journal Of Gastroenterology
Yin, Guo-Qing GQ; Chen, Ke-Ping KP; Gu, Xiao-Chun XC
Publication Date: 2022-10-28

Variant appearance in text: rs3130501
PubMed Link: 36353205
Variant Present in the following documents:
  • WJG-28-5784.pdf
View BVdb publication page



Pharmacogenetic Variation and Its Clinical Relevance in a Latin American Rural Population.

International Journal Of Molecular Sciences
Olloquequi, Jordi J; Castro-Santos, Patricia P; Díaz-Peña, Roberto R
Publication Date: 2022-10-04

Variant appearance in text: rs3130501
PubMed Link: 36233078
Variant Present in the following documents:
  • ijms-23-11758.pdf
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Untangling the genetic link between type 1 and type 2 diabetes using functional genomics.

Scientific Reports
Nyaga, Denis M DM; Vickers, Mark H MH; Jefferies, Craig C; Fadason, Tayaza T; O'Sullivan, Justin M JM
Publication Date: 2021-07-06

Variant appearance in text: rs3130501
PubMed Link: 34230558
Variant Present in the following documents:
  • Main text
  • 41598_2021_Article_93346.pdf
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Pharmacogenetic association of diabetes-associated genetic risk score with rapid progression of coronary artery calcification following treatment with HMG-CoA-reductase inhibitors -results of the Heinz Nixdorf Recall Study.

Naunyn-Schmiedeberg'S Archives Of Pharmacology
Pechlivanis, Sonali S; Jung, Dominik D; Moebus, Susanne S; Lehmann, Nils N; Mahabadi, Amir A AA; Hoffmann, Per P; Erbel, Raimund R; Nöthen, Markus M MM; Bachmann, Hagen S HS
Publication Date: 2021-08

Variant appearance in text: rs3130501
PubMed Link: 34021798
Variant Present in the following documents:
  • Main text
  • 210_2021_Article_2100.pdf
View BVdb publication page



Analysis of Glucocorticoid-Related Genes Reveal CCHCR1 as a New Candidate Gene for Type 2 Diabetes.

Journal Of The Endocrine Society
Brenner, Laura N LN; Mercader, Josep M JM; Robertson, Catherine C CC; Cole, Joanne J; Chen, Ling L; Jacobs, Suzanne B R SBR; Rich, Stephen S SS; Florez, Jose C JC
Publication Date: 2020-11-01

Variant appearance in text: rs3130501
PubMed Link: 33150273
Variant Present in the following documents:
  • Main text
  • bvaa121.pdf
View BVdb publication page



Host Genetic Determinants of Hepatitis B Virus Infection.

Frontiers In Genetics
Zhang, Zhenhua Z; Wang, Changtai C; Liu, Zhongping Z; Zou, Guizhou G; Li, Jun J; Lu, Mengji M
Publication Date: 2019

Variant appearance in text: rs3130501
PubMed Link: 31475028
Variant Present in the following documents:
  • Main text
  • fgene-10-00696.pdf
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Exploration of a diversity of computational and statistical measures of association for genome-wide genetic studies.

Biodata Mining
Manduchi, Elisabetta E; Orzechowski, Patryk R PR; Ritchie, Marylyn D MD; Moore, Jason H JH
Publication Date: 2019

Variant appearance in text: rs3130501
PubMed Link: 31320928
Variant Present in the following documents:
  • Main text
  • 13040_2019_Article_201.pdf
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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: rs3130501
PubMed Link: 30378292
Variant Present in the following documents:
  • CAM4-7-6308-s006.xlsx, sheet 1
View BVdb publication page



Exploring the Potential of Direct-To-Consumer Genomic Test Data for Predicting Adverse Drug Events.

Amia Joint Summits On Translational Science Proceedings. Amia Joint Summits On Translational Science
Zhang, Patrick M PM; Sarkar, Indra Neil IN
Publication Date: 2018

Variant appearance in text: rs3130501
PubMed Link: 29888082
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: rs3130501
PubMed Link: 27964746
Variant Present in the following documents:
  • 13073_2016_383_MOESM1_ESM.pdf
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Validation of Type 2 Diabetes Risk Variants Identified by Genome-Wide Association Studies in Northern Han Chinese.

International Journal Of Environmental Research And Public Health
Rao, Ping P; Zhou, Yong Y; Ge, Si-Qi SQ; Wang, An-Xin AX; Yu, Xin-Wei XW; Alzain, Mohamed Ali MA; Veronica, Andrea Katherine AK; Qiu, Jing J; Song, Man-Shu MS; Zhang, Jie J; Wang, Hao H; Fang, Hong-Hong HH; Gao, Qing Q; Wang, You-Xin YX; Wang, Wei W
Publication Date: 2016-08-30

Variant appearance in text: rs3130501
PubMed Link: 27589775
Variant Present in the following documents:
  • Main text
View BVdb publication page



Investigating shared aetiology between type 2 diabetes and major depressive disorder in a population based cohort.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Clarke, Toni-Kim TK; Obsteter, Jana J; Hall, Lynsey S LS; Hayward, Caroline C; Thomson, Pippa A PA; Smith, Blair H BH; Padmanabhan, Sandosh S; Hocking, Lynne J LJ; Deary, Ian J IJ; Porteous, David J DJ; McIntosh, Andrew M AM
Publication Date: 2017-04

Variant appearance in text: rs3130501
PubMed Link: 27480393
Variant Present in the following documents:
  • Main text
  • AJMG-174-227.pdf
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Replication Study in a Japanese Population of Six Susceptibility Loci for Type 2 Diabetes Originally Identified by a Transethnic Meta-Analysis of Genome-Wide Association Studies.

Plos One
Matsuba, Ren R; Imamura, Minako M; Tanaka, Yasushi Y; Iwata, Minoru M; Hirose, Hiroshi H; Kaku, Kohei K; Maegawa, Hiroshi H; Watada, Hirotaka H; Tobe, Kazuyuki K; Kashiwagi, Atsunori A; Kawamori, Ryuzo R; Maeda, Shiro S
Publication Date: 2016

Variant appearance in text: rs3130501
PubMed Link: 27115357
Variant Present in the following documents:
  • Main text
  • pone.0154093.pdf
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Complex Genetics of Type 2 Diabetes and Effect Size: What have We Learned from Isolated Populations?

The Review Of Diabetic Studies : Rds
Nair, Anup K AK; Baier, Leslie J LJ
Publication Date: 2015

Variant appearance in text: rs3130501
PubMed Link: 27111117
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes.

Nature Communications
Imamura, Minako M; Takahashi, Atsushi A; Yamauchi, Toshimasa T; Hara, Kazuo K; Yasuda, Kazuki K; Grarup, Niels N; Zhao, Wei W; Wang, Xu X; Huerta-Chagoya, Alicia A; Hu, Cheng C; Moon, Sanghoon S; Long, Jirong J; Kwak, Soo Heon SH; Rasheed, Asif A; Saxena, Richa R; Ma, Ronald C W RC; Okada, Yukinori Y; Iwata, Minoru M; Hosoe, Jun J; Shojima, Nobuhiro N; Iwasaki, Minaka M; Fujita, Hayato H; Suzuki, Ken K; Danesh, John J; Jørgensen, Torben T; Jørgensen, Marit E ME; Witte, Daniel R DR; Brandslund, Ivan I; Christensen, Cramer C; Hansen, Torben T; Mercader, Josep M JM; Flannick, Jason J; Moreno-Macías, Hortensia H; Burtt, Noël P NP; Zhang, Rong R; Kim, Young Jin YJ; Zheng, Wei W; Singh, Jai Rup JR; Tam, Claudia H T CH; Hirose, Hiroshi H; Maegawa, Hiroshi H; Ito, Chikako C; Kaku, Kohei K; Watada, Hirotaka H; Tanaka, Yasushi Y; Tobe, Kazuyuki K; Kawamori, Ryuzo R; Kubo, Michiaki M; Cho, Yoon Shin YS; Chan, Juliana C N JC; Sanghera, Dharambir D; Frossard, Philippe P; Park, Kyong Soo KS; Shu, Xiao-Ou XO; Kim, Bong-Jo BJ; Florez, Jose C JC; Tusié-Luna, Teresa T; Jia, Weiping W; Tai, E Shyong ES; Pedersen, Oluf O; Saleheen, Danish D; Maeda, Shiro S; Kadowaki, Takashi T
Publication Date: 2016-01-28

Variant appearance in text: rs3130501
PubMed Link: 26818947
Variant Present in the following documents:
  • ncomms10531-s1.pdf
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Diabetic Phenotypes and Late-Life Dementia Risk: A Mechanism-specific Mendelian Randomization Study.

Alzheimer Disease And Associated Disorders
Walter, Stefan S; Marden, Jessica R JR; Kubzansky, Laura D LD; Mayeda, Elizabeth R ER; Crane, Paul K PK; Chang, Shun-Chiao SC; Cornelis, Marilyn M; Rehkopf, David H DH; Mukherjee, Shubhabrata S; Glymour, M Maria MM
Publication Date: 2016

Variant appearance in text: rs3130501
PubMed Link: 26650880
Variant Present in the following documents:
  • Main text
View BVdb publication page



The type 2 diabetes risk allele of TMEM154-rs6813195 associates with decreased beta cell function in a study of 6,486 Danes.

Plos One
Harder, Marie Neergaard MN; Appel, Emil Vincent Rosenbaum EV; Grarup, Niels N; Gjesing, Anette Prior AP; Ahluwalia, Tarunveer S TS; Jørgensen, Torben T; Christensen, Cramer C; Brandslund, Ivan I; Linneberg, Allan A; Sørensen, Thorkild I A TI; Pedersen, Oluf O; Hansen, Torben T
Publication Date: 2015

Variant appearance in text: rs3130501
PubMed Link: 25799151
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetics of type 2 diabetes-pitfalls and possibilities.

Genes
Prasad, Rashmi B RB; Groop, Leif L
Publication Date: 2015-03-12

Variant appearance in text: rs3130501
PubMed Link: 25774817
Variant Present in the following documents:
  • Main text
  • genes-06-00087.pdf
View BVdb publication page



Rare variants at 16p11.2 are associated with common variable immunodeficiency.

The Journal Of Allergy And Clinical Immunology
Maggadottir, S Melkorka SM; Li, Jin J; Glessner, Joseph T JT; Li, Yun Rose YR; Wei, Zhi Z; Chang, Xiao X; Mentch, Frank D FD; Thomas, Kelly A KA; Kim, Cecilia E CE; Zhao, Yan Y; Hou, Cuiping C; Wang, Fengxiang F; Jørgensen, Silje F SF; Perez, Elena E EE; Sullivan, Kathleen E KE; Orange, Jordan S JS; Karlsen, Tom H TH; Chapel, Helen H; Cunningham-Rundles, Charlotte C; Hakonarson, Hakon H
Publication Date: 2015-06

Variant appearance in text: rs3130501
PubMed Link: 25678086
Variant Present in the following documents:
  • Main text
View BVdb publication page



Role of Established Type 2 Diabetes-Susceptibility Genetic Variants in a High Prevalence American Indian Population.

Diabetes
Hanson, Robert L RL; Rong, Rong R; Kobes, Sayuko S; Muller, Yunhua Li YL; Weil, E Jennifer EJ; Curtis, Jeffrey M JM; Nelson, Robert G RG; Baier, Leslie J LJ
Publication Date: 2015-07

Variant appearance in text: rs3130501
PubMed Link: 25667308
Variant Present in the following documents:
  • Main text
View BVdb publication page



Variants associated with type 2 diabetes identified by the transethnic meta-analysis study: assessment in American Indians and evidence for a new signal in LPP.

Diabetologia
Nair, Anup K AK; Muller, Yunhua Li YL; McLean, Nellie A NA; Abdussamad, Maryam M; Piaggi, Paolo P; Kobes, Sayuko S; Weil, E Jennifer EJ; Curtis, Jeffrey M JM; Nelson, Robert G RG; Knowler, William C WC; Hanson, Robert L RL; Baier, Leslie J LJ
Publication Date: 2014-11

Variant appearance in text: rs3130501
PubMed Link: 25112377
Variant Present in the following documents:
  • Main text
  • 125_2014_Article_3351.pdf
View BVdb publication page



Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes.

Plos Genetics
Ng, Maggie C Y MC; Shriner, Daniel D; Chen, Brian H BH; Li, Jiang J; Chen, Wei-Min WM; Guo, Xiuqing X; Liu, Jiankang J; Bielinski, Suzette J SJ; Yanek, Lisa R LR; Nalls, Michael A MA; Comeau, Mary E ME; Rasmussen-Torvik, Laura J LJ; Jensen, Richard A RA; Evans, Daniel S DS; Sun, Yan V YV; An, Ping P; Patel, Sanjay R SR; Lu, Yingchang Y; Long, Jirong J; Armstrong, Loren L LL; Wagenknecht, Lynne L; Yang, Lingyao L; Snively, Beverly M BM; Palmer, Nicholette D ND; Mudgal, Poorva P; Langefeld, Carl D CD; Keene, Keith L KL; Freedman, Barry I BI; Mychaleckyj, Josyf C JC; Nayak, Uma U; Raffel, Leslie J LJ; Goodarzi, Mark O MO; Chen, Y-D Ida YD; Taylor, Herman A HA; Correa, Adolfo A; Sims, Mario M; Couper, David D; Pankow, James S JS; Boerwinkle, Eric E; Adeyemo, Adebowale A; Doumatey, Ayo A; Chen, Guanjie G; Mathias, Rasika A RA; Vaidya, Dhananjay D; Singleton, Andrew B AB; Zonderman, Alan B AB; Igo, Robert P RP; Sedor, John R JR; , ; Kabagambe, Edmond K EK; Siscovick, David S DS; McKnight, Barbara B; Rice, Kenneth K; Liu, Yongmei Y; Hsueh, Wen-Chi WC; Zhao, Wei W; Bielak, Lawrence F LF; Kraja, Aldi A; Province, Michael A MA; Bottinger, Erwin P EP; Gottesman, Omri O; Cai, Qiuyin Q; Zheng, Wei W; Blot, William J WJ; Lowe, William L WL; Pacheco, Jennifer A JA; Crawford, Dana C DC; , ; , ; Grundberg, Elin E; , ; Rich, Stephen S SS; Hayes, M Geoffrey MG; Shu, Xiao-Ou XO; Loos, Ruth J F RJ; Borecki, Ingrid B IB; Peyser, Patricia A PA; Cummings, Steven R SR; Psaty, Bruce M BM; Fornage, Myriam M; Iyengar, Sudha K SK; Evans, Michele K MK; Becker, Diane M DM; Kao, W H Linda WH; Wilson, James G JG; Rotter, Jerome I JI; Sale, Michèle M MM; Liu, Simin S; Rotimi, Charles N CN; Bowden, Donald W DW; ,
Publication Date: 2014-08

Variant appearance in text: rs3130501
PubMed Link: 25102180
Variant Present in the following documents:
  • Main text
View BVdb publication page



PharmGKB summary: uric acid-lowering drugs pathway, pharmacodynamics.

Pharmacogenetics And Genomics
McDonagh, Ellen M EM; Thorn, Caroline F CF; Callaghan, John T JT; Altman, Russ B RB; Klein, Teri E TE
Publication Date: 2014-09

Variant appearance in text: rs3130501
PubMed Link: 24915143
Variant Present in the following documents:
  • Main text
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: rs3130501
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



Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.

Nature Genetics
, ; , ; , ; , ; , ; Mahajan, Anubha A; Go, Min Jin MJ; Zhang, Weihua W; Below, Jennifer E JE; Gaulton, Kyle J KJ; Ferreira, Teresa T; Horikoshi, Momoko M; Johnson, Andrew D AD; Ng, Maggie C Y MC; Prokopenko, Inga I; Saleheen, Danish D; Wang, Xu X; Zeggini, Eleftheria E; Abecasis, Goncalo R GR; Adair, Linda S LS; Almgren, Peter P; Atalay, Mustafa M; Aung, Tin T; Baldassarre, Damiano D; Balkau, Beverley B; Bao, Yuqian Y; Barnett, Anthony H AH; Barroso, Ines I; Basit, Abdul A; Been, Latonya F LF; Beilby, John J; Bell, Graeme I GI; Benediktsson, Rafn R; Bergman, Richard N RN; Boehm, Bernhard O BO; Boerwinkle, Eric E; Bonnycastle, Lori L LL; Burtt, Noël N; Cai, Qiuyin Q; Campbell, Harry H; Carey, Jason J; Cauchi, Stephane S; Caulfield, Mark M; Chan, Juliana C N JC; Chang, Li-Ching LC; Chang, Tien-Jyun TJ; Chang, Yi-Cheng YC; Charpentier, Guillaume G; Chen, Chien-Hsiun CH; Chen, Han H; Chen, Yuan-Tsong YT; Chia, Kee-Seng KS; Chidambaram, Manickam M; Chines, Peter S PS; Cho, Nam H NH; Cho, Young Min YM; Chuang, Lee-Ming LM; Collins, Francis S FS; Cornelis, Marylin C MC; Couper, David J DJ; Crenshaw, Andrew T AT; van Dam, Rob M RM; Danesh, John J; Das, Debashish D; de Faire, Ulf U; Dedoussis, George G; Deloukas, Panos P; Dimas, Antigone S AS; Dina, Christian C; Doney, Alex S AS; Donnelly, Peter J PJ; Dorkhan, Mozhgan M; van Duijn, Cornelia C; Dupuis, Josée J; Edkins, Sarah S; Elliott, Paul P; Emilsson, Valur V; Erbel, Raimund R; Eriksson, Johan G JG; Escobedo, Jorge J; Esko, Tonu T; Eury, Elodie E; Florez, Jose C JC; Fontanillas, Pierre P; Forouhi, Nita G NG; Forsen, Tom T; Fox, Caroline C; Fraser, Ross M RM; Frayling, Timothy M TM; Froguel, Philippe P; Frossard, Philippe P; Gao, Yutang Y; Gertow, Karl K; Gieger, Christian C; Gigante, Bruna B; Grallert, Harald H; Grant, George B GB; Grrop, Leif C LC; Groves, Chrisropher J CJ; Grundberg, Elin E; Guiducci, Candace C; Hamsten, Anders A; Han, Bok-Ghee BG; Hara, Kazuo K; Hassanali, Neelam N; Hattersley, Andrew T AT; Hayward, Caroline C; Hedman, Asa K AK; Herder, Christian C; Hofman, Albert A; Holmen, Oddgeir L OL; Hovingh, Kees K; Hreidarsson, Astradur B AB; Hu, Cheng C; Hu, Frank B FB; Hui, Jennie J; Humphries, Steve E SE; Hunt, Sarah E SE; Hunter, David J DJ; Hveem, Kristian K; Hydrie, Zafar I ZI; Ikegami, Hiroshi H; Illig, Thomas T; Ingelsson, Erik E; Islam, Muhammed M; Isomaa, Bo B; Jackson, Anne U AU; Jafar, Tazeen T; James, Alan A; Jia, Weiping W; Jöckel, Karl-Heinz KH; Jonsson, Anna A; Jowett, Jeremy B M JB; Kadowaki, Takashi T; Kang, Hyun Min HM; Kanoni, Stavroula S; Kao, Wen Hong L WH; Kathiresan, Sekar S; Kato, Norihiro N; Katulanda, Prasad P; Keinanen-Kiukaanniemi, Kirkka M KM; Kelly, Ann M AM; Khan, Hassan H; Khaw, Kay-Tee KT; Khor, Chiea-Chuen CC; Kim, Hyung-Lae HL; Kim, Sangsoo S; Kim, Young Jin YJ; Kinnunen, Leena L; Klopp, Norman N; Kong, Augustine A; Korpi-Hyövälti, Eeva E; Kowlessur, Sudhir S; Kraft, Peter P; Kravic, Jasmina J; Kristensen, Malene M MM; Krithika, S S; Kumar, Ashish A; Kumate, Jesus J; Kuusisto, Johanna J; Kwak, Soo Heon SH; Laakso, Markku M; Lagou, Vasiliki V; Lakka, Timo A TA; Langenberg, Claudia C; Langford, Cordelia C; Lawrence, Robert R; Leander, Karin K; Lee, Jen-Mai JM; Lee, Nanette R NR; Li, Man M; Li, Xinzhong X; Li, Yun Y; Liang, Junbin J; Liju, Samuel S; Lim, Wei-Yen WY; Lind, Lars L; Lindgren, Cecilia M CM; Lindholm, Eero E; Liu, Ching-Ti CT; Liu, Jian Jun JJ; Lobbens, Stéphane S; Long, Jirong J; Loos, Ruth J F RJ; Lu, Wei W; Luan, Jian'an J; Lyssenko, Valeriya V; Ma, Ronald C W RC; Maeda, Shiro S; Mägi, Reedik R; Männisto, Satu S; Matthews, David R DR; Meigs, James B JB; Melander, Olle O; Metspalu, Andres A; Meyer, Julia J; Mirza, Ghazala G; Mihailov, Evelin E; Moebus, Susanne S; Mohan, Viswanathan V; Mohlke, Karen L KL; Morris, Andrew D AD; Mühleisen, Thomas W TW; Müller-Nurasyid, Martina M; Musk, Bill B; Nakamura, Jiro J; Nakashima, Eitaro E; Navarro, Pau P; Ng, Peng-Keat PK; Nica, Alexandra C AC; Nilsson, Peter M PM; Njølstad, Inger I; Nöthen, Markus M MM; Ohnaka, Keizo K; Ong, Twee Hee TH; Owen, Katharine R KR; Palmer, Colin N A CN; Pankow, James S JS; Park, Kyong Soo KS; Parkin, Melissa M; Pechlivanis, Sonali S; Pedersen, Nancy L NL; Peltonen, Leena L; Perry, John R B JR; Peters, Annette A; Pinidiyapathirage, Janini M JM; Platou, Carl G CG; Potter, Simon S; Price, Jackie F JF; Qi, Lu L; Radha, Venkatesan V; Rallidis, Loukianos L; Rasheed, Asif A; Rathman, Wolfgang W; Rauramaa, Rainer R; Raychaudhuri, Soumya S; Rayner, N William NW; Rees, Simon D SD; Rehnberg, Emil E; Ripatti, Samuli S; Robertson, Neil N; Roden, Michael M; Rossin, Elizabeth J EJ; Rudan, Igor I; Rybin, Denis D; Saaristo, Timo E TE; Salomaa, Veikko V; Saltevo, Juha J; Samuel, Maria M; Sanghera, Dharambir K DK; Saramies, Jouko J; Scott, James J; Scott, Laura J LJ; Scott, Robert A RA; Segrè, Ayellet V AV; Sehmi, Joban J; Sennblad, Bengt B; Shah, Nabi N; Shah, Sonia S; Shera, A Samad AS; Shu, Xiao Ou XO; Shuldiner, Alan R AR; Sigurđsson, Gunnar G; Sijbrands, Eric E; Silveira, Angela A; Sim, Xueling X; Sivapalaratnam, Suthesh S; Small, Kerrin S KS; So, Wing Yee WY; Stančáková, Alena A; Stefansson, Kari K; Steinbach, Gerald G; Steinthorsdottir, Valgerdur V; Stirrups, Kathleen K; Strawbridge, Rona J RJ; Stringham, Heather M HM; Sun, Qi Q; Suo, Chen C; Syvänen, Ann-Christine AC; Takayanagi, Ryoichi R; Takeuchi, Fumihiko F; Tay, Wan Ting WT; Teslovich, Tanya M TM; Thorand, Barbara B; Thorleifsson, Gudmar G; Thorsteinsdottir, Unnur U; Tikkanen, Emmi E; Trakalo, Joseph J; Tremoli, Elena E; Trip, Mieke D MD; Tsai, Fuu Jen FJ; Tuomi, Tiinamaija T; Tuomilehto, Jaakko J; Uitterlinden, Andre G AG; Valladares-Salgado, Adan A; Vedantam, Sailaja S; Veglia, Fabrizio F; Voight, Benjamin F BF; Wang, Congrong C; Wareham, Nicholas J NJ; Wennauer, Roman R; Wickremasinghe, Ananda R AR; Wilsgaard, Tom T; Wilson, James F JF; Wiltshire, Steven S; Winckler, Wendy W; Wong, Tien Yin TY; Wood, Andrew R AR; Wu, Jer-Yuarn JY; Wu, Ying Y; Yamamoto, Ken K; Yamauchi, Toshimasa T; Yang, Mingyu M; Yengo, Loic L; Yokota, Mitsuhiro M; Young, Robin R; Zabaneh, Delilah D; Zhang, Fan F; Zhang, Rong R; Zheng, Wei W; Zimmet, Paul Z PZ; Altshuler, David D; Bowden, Donald W DW; Cho, Yoon Shin YS; Cox, Nancy J NJ; Cruz, Miguel M; Hanis, Craig L CL; Kooner, Jaspal J; Lee, Jong-Young JY; Seielstad, Mark M; Teo, Yik Ying YY; Boehnke, Michael M; Parra, Esteban J EJ; Chambers, Jonh C JC; Tai, E Shyong ES; McCarthy, Mark I MI; Morris, Andrew P AP
Publication Date: 2014-03

Variant appearance in text: rs3130501
PubMed Link: 24509480
Variant Present in the following documents:
  • Main text
  • nihms557904.pdf
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DeepSAGE reveals genetic variants associated with alternative polyadenylation and expression of coding and non-coding transcripts.

Plos Genetics
Zhernakova, Daria V DV; de Klerk, Eleonora E; Westra, Harm-Jan HJ; Mastrokolias, Anastasios A; Amini, Shoaib S; Ariyurek, Yavuz Y; Jansen, Rick R; Penninx, Brenda W BW; Hottenga, Jouke J JJ; Willemsen, Gonneke G; de Geus, Eco J EJ; Boomsma, Dorret I DI; Veldink, Jan H JH; van den Berg, Leonard H LH; Wijmenga, Cisca C; den Dunnen, Johan T JT; van Ommen, Gert-Jan B GJ; 't Hoen, Peter A C PA; Franke, Lude L
Publication Date: 2013-06

Variant appearance in text: rs3130501
PubMed Link: 23818875
Variant Present in the following documents:
  • Main text
View BVdb publication page



Clinical Pharmacogenetics Implementation Consortium guidelines for human leukocyte antigen-B genotype and allopurinol dosing.

Clinical Pharmacology And Therapeutics
Hershfield, M S MS; Callaghan, J T JT; Tassaneeyakul, W W; Mushiroda, T T; Thorn, C F CF; Klein, T E TE; Lee, M T M MT
Publication Date: 2013-02

Variant appearance in text: rs3130501
PubMed Link: 23232549
Variant Present in the following documents:
  • Main text
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Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

Nature Genetics
Morris, Andrew P AP; Voight, Benjamin F BF; Teslovich, Tanya M TM; Ferreira, Teresa T; Segrè, Ayellet V AV; Steinthorsdottir, Valgerdur V; Strawbridge, Rona J RJ; Khan, Hassan H; Grallert, Harald H; Mahajan, Anubha A; Prokopenko, Inga I; Kang, Hyun Min HM; Dina, Christian C; Esko, Tonu T; Fraser, Ross M RM; Kanoni, Stavroula S; Kumar, Ashish A; Lagou, Vasiliki V; Langenberg, Claudia C; Luan, Jian'an J; Lindgren, Cecilia M CM; Müller-Nurasyid, Martina M; Pechlivanis, Sonali S; Rayner, N William NW; Scott, Laura J LJ; Wiltshire, Steven S; Yengo, Loic L; Kinnunen, Leena L; Rossin, Elizabeth J EJ; Raychaudhuri, Soumya S; Johnson, Andrew D AD; Dimas, Antigone S AS; Loos, Ruth J F RJ; Vedantam, Sailaja S; Chen, Han H; Florez, Jose C JC; Fox, Caroline C; Liu, Ching-Ti CT; Rybin, Denis D; Couper, David J DJ; Kao, Wen Hong L WH; Li, Man M; Cornelis, Marilyn C MC; Kraft, Peter P; Sun, Qi Q; van Dam, Rob M RM; Stringham, Heather M HM; Chines, Peter S PS; Fischer, Krista K; Fontanillas, Pierre P; Holmen, Oddgeir L OL; Hunt, Sarah E SE; Jackson, Anne U AU; Kong, Augustine A; Lawrence, Robert R; Meyer, Julia J; Perry, John R B JR; Platou, Carl G P CG; Potter, Simon S; Rehnberg, Emil E; Robertson, Neil N; Sivapalaratnam, Suthesh S; Stančáková, Alena A; Stirrups, Kathleen K; Thorleifsson, Gudmar G; Tikkanen, Emmi E; Wood, Andrew R AR; Almgren, Peter P; Atalay, Mustafa M; Benediktsson, Rafn R; Bonnycastle, Lori L LL; Burtt, Noël N; Carey, Jason J; Charpentier, Guillaume G; Crenshaw, Andrew T AT; Doney, Alex S F AS; Dorkhan, Mozhgan M; Edkins, Sarah S; Emilsson, Valur V; Eury, Elodie E; Forsen, Tom T; Gertow, Karl K; Gigante, Bruna B; Grant, George B GB; Groves, Christopher J CJ; Guiducci, Candace C; Herder, Christian C; Hreidarsson, Astradur B AB; Hui, Jennie J; James, Alan A; Jonsson, Anna A; Rathmann, Wolfgang W; Klopp, Norman N; Kravic, Jasmina J; Krjutškov, Kaarel K; Langford, Cordelia C; Leander, Karin K; Lindholm, Eero E; Lobbens, Stéphane S; Männistö, Satu S; Mirza, Ghazala G; Mühleisen, Thomas W TW; Musk, Bill B; Parkin, Melissa M; Rallidis, Loukianos L; Saramies, Jouko J; Sennblad, Bengt B; Shah, Sonia S; Sigurðsson, Gunnar G; Silveira, Angela A; Steinbach, Gerald G; Thorand, Barbara B; Trakalo, Joseph J; Veglia, Fabrizio F; Wennauer, Roman R; Winckler, Wendy W; Zabaneh, Delilah D; Campbell, Harry H; van Duijn, Cornelia C; Uitterlinden, Andre G AG; Hofman, Albert A; Sijbrands, Eric E; Abecasis, Goncalo R GR; Owen, Katharine R KR; Zeggini, Eleftheria E; Trip, Mieke D MD; Forouhi, Nita G NG; Syvänen, Ann-Christine AC; Eriksson, Johan G JG; Peltonen, Leena L; Nöthen, Markus M MM; Balkau, Beverley B; Palmer, Colin N A CN; Lyssenko, Valeriya V; Tuomi, Tiinamaija T; Isomaa, Bo B; Hunter, David J DJ; Qi, Lu L; , ; , ; , ; , ; , ; Shuldiner, Alan R AR; Roden, Michael M; Barroso, Ines I; Wilsgaard, Tom T; Beilby, John J; Hovingh, Kees K; Price, Jackie F JF; Wilson, James F JF; Rauramaa, Rainer R; Lakka, Timo A TA; Lind, Lars L; Dedoussis, George G; Njølstad, Inger I; Pedersen, Nancy L NL; Khaw, Kay-Tee KT; Wareham, Nicholas J NJ; Keinanen-Kiukaanniemi, Sirkka M SM; Saaristo, Timo E TE; Korpi-Hyövälti, Eeva E; Saltevo, Juha J; Laakso, Markku M; Kuusisto, Johanna J; Metspalu, Andres A; Collins, Francis S FS; Mohlke, Karen L KL; Bergman, Richard N RN; Tuomilehto, Jaakko J; Boehm, Bernhard O BO; Gieger, Christian C; Hveem, Kristian K; Cauchi, Stephane S; Froguel, Philippe P; Baldassarre, Damiano D; Tremoli, Elena E; Humphries, Steve E SE; Saleheen, Danish D; Danesh, John J; Ingelsson, Erik E; Ripatti, Samuli S; Salomaa, Veikko V; Erbel, Raimund R; Jöckel, Karl-Heinz KH; Moebus, Susanne S; Peters, Annette A; Illig, Thomas T; de Faire, Ulf U; Hamsten, Anders A; Morris, Andrew D AD; Donnelly, Peter J PJ; Frayling, Timothy M TM; Hattersley, Andrew T AT; Boerwinkle, Eric E; Melander, Olle O; Kathiresan, Sekar S; Nilsson, Peter M PM; Deloukas, Panos P; Thorsteinsdottir, Unnur U; Groop, Leif C LC; Stefansson, Kari K; Hu, Frank F; Pankow, James S JS; Dupuis, Josée J; Meigs, James B JB; Altshuler, David D; Boehnke, Michael M; McCarthy, Mark I MI; ,
Publication Date: 2012-09

Variant appearance in text: rs3130501
PubMed Link: 22885922
Variant Present in the following documents:
  • NIHMS49214-supplement-2.pdf
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Genome-wide association study of Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis in Europe.

Orphanet Journal Of Rare Diseases
Génin, Emmanuelle E; Schumacher, Martin M; Roujeau, Jean-Claude JC; Naldi, Luigi L; Liss, Yvonne Y; Kazma, Rémi R; Sekula, Peggy P; Hovnanian, Alain A; Mockenhaupt, Maja M
Publication Date: 2011-07-29

Variant appearance in text: rs3130501
PubMed Link: 21801394
Variant Present in the following documents:
  • Main text
  • 1750-1172-6-52.pdf
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A search for overlapping genetic susceptibility loci between non-Hodgkin lymphoma and autoimmune diseases.

Genomics
Conde, Lucia L; Bracci, Paige M PM; Halperin, Eran E; Skibola, Christine F CF
Publication Date: 2011-07

Variant appearance in text: rs3130501
PubMed Link: 21439368
Variant Present in the following documents:
  • Main text
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