NFKBIA c.*2C>G

Variant ID: 14-35871217-G-C

NM_020529.2(NFKBIA):c.*2C>G

This variant was identified in 44 publications

View GRCh38 version.




Publications:


Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.

Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21

Variant appearance in text: rs8904
PubMed Link: 36269797
Variant Present in the following documents:
  • ccr-22-2060_supplementary_table_s5_suppts5.xlsx, sheet 1
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: rs8904
PubMed Link: 36241656
Variant Present in the following documents:
  • 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
  • 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
View BVdb publication page



A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation
Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Publication Date: 2022-09-08

Variant appearance in text: rs8904
PubMed Link: 36075891
Variant Present in the following documents:
  • 41439_2022_208_MOESM3_ESM.xlsx, sheet 2
View BVdb publication page



Genetic and epigenetic mechanisms influencing acute to chronic postsurgical pain transitions in pediatrics: Preclinical to clinical evidence.

Canadian Journal Of Pain = Revue Canadienne De La Douleur
Dourson, Adam J AJ; Willits, Adam A; Raut, Namrata G R NGR; Kader, Leena L; Young, Erin E; Jankowski, Michael P MP; Chidambaran, Vidya V
Publication Date: 2022

Variant appearance in text: rs8904
PubMed Link: 35572362
Variant Present in the following documents:
  • Main text
  • UCJP_6_2021799.pdf
View BVdb publication page



Genetic and Clinical Factors Associated with Opioid Response in Chinese Han Patients with Cancer Pain: An Exploratory Cross-Sectional Study.

Pain And Therapy
Shi, Chen C; Liu, Jinmei J; Hu, Jianli J; Chen, Xu X; Xie, Jiyi J; Luo, Juan J; Wang, Cong C; Wang, Hanxiang H; Yuan, Qi Q; Zhu, Haixia H; Gong, Weijing W; Li, Shijun S; Zhou, Hong H; Wang, Leiyun L; Wang, Hui H; Zhang, Yu Y
Publication Date: 2022-03

Variant appearance in text: rs8904
PubMed Link: 35107781
Variant Present in the following documents:
  • Main text
  • 40122_2022_Article_353.pdf
View BVdb publication page



Genetic Variants of the NF-κB Pathway: Unraveling the Genetic Architecture of Psoriatic Disease.

International Journal Of Molecular Sciences
Queiro, Rubén R; Coto, Pablo P; González-Lara, Leire L; Coto, Eliecer E
Publication Date: 2021-11-30

Variant appearance in text: rs8904
PubMed Link: 34884808
Variant Present in the following documents:
  • Main text
  • ijms-22-13004.pdf
View BVdb publication page



Genetic Variants of the NF-κB Pathway: Unraveling the Genetic Architecture of Psoriatic Disease.

International Journal Of Molecular Sciences
Queiro, Rubén R; Coto, Pablo P; González-Lara, Leire L; Coto, Eliecer E
Publication Date: 2021-11-30

Variant appearance in text: rs8904
PubMed Link: 34884808
Variant Present in the following documents:
  • Main text
  • ijms-22-13004.pdf
View BVdb publication page



Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Nature Communications
Georges, Adrien A; Yang, Min-Lee ML; Berrandou, Takiy-Eddine TE; Bakker, Mark K MK; Dikilitas, Ozan O; Kiando, Soto Romuald SR; Ma, Lijiang L; Satterfield, Benjamin A BA; Sengupta, Sebanti S; Yu, Mengyao M; Deleuze, Jean-François JF; Dupré, Delia D; Hunker, Kristina L KL; Kyryachenko, Sergiy S; Liu, Lu L; Sayoud-Sadeg, Ines I; Amar, Laurence L; Brummett, Chad M CM; Coleman, Dawn M DM; d'Escamard, Valentina V; de Leeuw, Peter P; Fendrikova-Mahlay, Natalia N; Kadian-Dodov, Daniella D; Li, Jun Z JZ; Lorthioir, Aurélien A; Pappaccogli, Marco M; Prejbisz, Aleksander A; Smigielski, Witold W; Stanley, James C JC; Zawistowski, Matthew M; Zhou, Xiang X; Zöllner, Sebastian S; , ; , ; , ; Amouyel, Philippe P; De Buyzere, Marc L ML; Debette, Stéphanie S; Dobrowolski, Piotr P; Drygas, Wojciech W; Gornik, Heather L HL; Olin, Jeffrey W JW; Piwonski, Jerzy J; Rietzschel, Ernst R ER; Ruigrok, Ynte M YM; Vikkula, Miikka M; Warchol Celinska, Ewa E; Januszewicz, Andrzej A; Kullo, Iftikhar J IJ; Azizi, Michel M; Jeunemaitre, Xavier X; Persu, Alexandre A; Kovacic, Jason C JC; Ganesh, Santhi K SK; Bouatia-Naji, Nabila N
Publication Date: 2021-10-15

Variant appearance in text: rs8904
PubMed Link: 34654805
Variant Present in the following documents:
  • 41467_2021_26174_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.

Nature Communications
Georges, Adrien A; Yang, Min-Lee ML; Berrandou, Takiy-Eddine TE; Bakker, Mark K MK; Dikilitas, Ozan O; Kiando, Soto Romuald SR; Ma, Lijiang L; Satterfield, Benjamin A BA; Sengupta, Sebanti S; Yu, Mengyao M; Deleuze, Jean-François JF; Dupré, Delia D; Hunker, Kristina L KL; Kyryachenko, Sergiy S; Liu, Lu L; Sayoud-Sadeg, Ines I; Amar, Laurence L; Brummett, Chad M CM; Coleman, Dawn M DM; d'Escamard, Valentina V; de Leeuw, Peter P; Fendrikova-Mahlay, Natalia N; Kadian-Dodov, Daniella D; Li, Jun Z JZ; Lorthioir, Aurélien A; Pappaccogli, Marco M; Prejbisz, Aleksander A; Smigielski, Witold W; Stanley, James C JC; Zawistowski, Matthew M; Zhou, Xiang X; Zöllner, Sebastian S; , ; , ; , ; Amouyel, Philippe P; De Buyzere, Marc L ML; Debette, Stéphanie S; Dobrowolski, Piotr P; Drygas, Wojciech W; Gornik, Heather L HL; Olin, Jeffrey W JW; Piwonski, Jerzy J; Rietzschel, Ernst R ER; Ruigrok, Ynte M YM; Vikkula, Miikka M; Warchol Celinska, Ewa E; Januszewicz, Andrzej A; Kullo, Iftikhar J IJ; Azizi, Michel M; , ; Jeunemaitre, Xavier X; Persu, Alexandre A; Kovacic, Jason C JC; Ganesh, Santhi K SK; Bouatia-Naji, Nabila N
Publication Date: 2021-10-15

Variant appearance in text: rs8904
PubMed Link: 34654805
Variant Present in the following documents:
  • 41467_2021_26174_MOESM5_ESM.xlsx, sheet 1
View BVdb publication page



Von Hippel-Lindau gene single nucleotide polymorphism (rs1642742) may be related to the occurrence and metastasis of HBV-related hepatocellular carcinoma.

Medicine
Chen, Xuebing X; Zhang, Hao H; Ou, Shimei S; Chen, Huijuan H
Publication Date: 2021-09-03

Variant appearance in text: rs8904
PubMed Link: 34477178
Variant Present in the following documents:
  • Main text
  • medi-100-e27187.pdf
View BVdb publication page



Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics
Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM
Publication Date: 2020-12

Variant appearance in text: rs8904
PubMed Link: 33230298
Variant Present in the following documents:
  • NIHMS1637640-supplement-SuppData1.xlsx, sheet 1
View BVdb publication page



Genetic Polymorphisms of Cytokines Might Affect Postoperative Sufentanil Dosage for Analgesia in Patients.

Journal Of Pain Research
Guo, Jian J; Yuan, Fei F; Yang, Yixin Y; Li, Yunze Y; Bao, Fangping F; Guo, Xuejiao X; Feng, Zhiying Z
Publication Date: 2020

Variant appearance in text: rs8904
PubMed Link: 32606912
Variant Present in the following documents:
  • Main text
  • jpr-13-1461.pdf
View BVdb publication page



Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis
Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q
Publication Date: 2020-09

Variant appearance in text: rs8904
PubMed Link: 32529721
Variant Present in the following documents:
  • JCLA-34-e23418-s003.xls, sheet 1
View BVdb publication page



PGG.SNV: understanding the evolutionary and medical implications of human single nucleotide variations in diverse populations.

Genome Biology
Zhang, Chao C; Gao, Yang Y; Ning, Zhilin Z; Lu, Yan Y; Zhang, Xiaoxi X; Liu, Jiaojiao J; Xie, Bo B; Xue, Zhe Z; Wang, Xiaoji X; Yuan, Kai K; Ge, Xueling X; Pan, Yuwen Y; Liu, Chang C; Tian, Lei L; Wang, Yuchen Y; Lu, Dongsheng D; Hoh, Boon-Peng BP; Xu, Shuhua S
Publication Date: 2019-10-22

Variant appearance in text: rs8904
PubMed Link: 31640808
Variant Present in the following documents:
  • 13059_2019_1838_MOESM3_ESM.xlsx, sheet 1
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: rs8904
PubMed Link: 31597922
Variant Present in the following documents:
  • 41598_2019_50891_MOESM7_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM6_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
  • 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1
View BVdb publication page



Mutation profiling of cancer drivers in Brazilian colorectal cancer.

Scientific Reports
Dos Santos, Wellington W; Sobanski, Thais T; de Carvalho, Ana Carolina AC; Evangelista, Adriane Feijó AF; Matsushita, Marcus M; Berardinelli, Gustavo Nóriz GN; de Oliveira, Marco Antonio MA; Reis, Rui Manuel RM; Guimarães, Denise Peixoto DP
Publication Date: 2019-09-23

Variant appearance in text: rs8904
PubMed Link: 31548566
Variant Present in the following documents:
  • 41598_2019_49611_MOESM1_ESM.pdf
View BVdb publication page



Use of Genetic Variants Related to Antihypertensive Drugs to Inform on Efficacy and Side Effects.

Circulation
Gill, Dipender D; Georgakis, Marios K MK; Koskeridis, Fotios F; Jiang, Lan L; Feng, Qiping Q; Wei, Wei-Qi WQ; Theodoratou, Evropi E; Elliott, Paul P; Denny, Joshua C JC; Malik, Rainer R; Evangelou, Evangelos E; Dehghan, Abbas A; Dichgans, Martin M; Tzoulaki, Ioanna I
Publication Date: 2019-07-23

Variant appearance in text: rs8904
PubMed Link: 31234639
Variant Present in the following documents:
  • cir-140-270-s001.pdf
View BVdb publication page



Systematic Review and Meta-Analysis of Genetic Risk of Developing Chronic Postsurgical Pain.

The Journal Of Pain
Chidambaran, Vidya V; Gang, Yang Y; Pilipenko, Valentina V; Ashton, Maria M; Ding, Lili L
Publication Date: 2020

Variant appearance in text: rs8904
PubMed Link: 31129315
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic Variants Associated with Cancer Pain and Response to Opioid Analgesics: Implications for Precision Pain Management.

Seminars In Oncology Nursing
Yang, Gee Su GS; Barnes, Natalie M NM; Lyon, Debra E DE; Dorsey, Susan G SG
Publication Date: 2019-06

Variant appearance in text: rs8904
PubMed Link: 31085105
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-Wide Association Studies of Hypertension and Several Other Cardiovascular Diseases.

Pulse (Basel, Switzerland)
Wang, Yan Y; Wang, Ji-Guang JG
Publication Date: 2019-04

Variant appearance in text: rs8904
PubMed Link: 31049317
Variant Present in the following documents:
  • Main text
View BVdb publication page



Analysis of 75 Candidate SNPs Associated With Acute Rejection in Kidney Transplant Recipients: Validation of rs2910164 in MicroRNA MIR146A.

Transplantation
Oetting, William S WS; Schladt, David P DP; Dorr, Casey R CR; Wu, Baolin B; Guan, Weihua W; Remmel, Rory P RP; Iklé, David D; Mannon, Roslyn B RB; Matas, Arthur J AJ; Israni, Ajay K AK; Jacobson, Pamala A PA; ,
Publication Date: 2019-08

Variant appearance in text: rs8904
PubMed Link: 30801535
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: rs8904
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_7.xlsx, sheet 1
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
View BVdb publication page



TLR10 and NFKBIA contributed to the risk of hip osteoarthritis: systematic evaluation based on Han Chinese population.

Scientific Reports
Tang, Hongtao H; Cheng, Zhenzhen Z; Ma, Wenlong W; Liu, Youwen Y; Tong, Zhaofang Z; Sun, Ruibo R; Liu, Hongliang H
Publication Date: 2018-07-06

Variant appearance in text: rs8904
PubMed Link: 29980729
Variant Present in the following documents:
  • Main text
  • 41598_2018_Article_28597.pdf
View BVdb publication page



A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine
Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H
Publication Date: 2018-09

Variant appearance in text: rs8904
PubMed Link: 29974678
Variant Present in the following documents:
  • MGG3-6-739-s002.xlsx, sheet 4
  • MGG3-6-739-s002.xlsx, sheet 3
  • MGG3-6-739-s002.xlsx, sheet 6
View BVdb publication page



Brief Overview of a Decade of Genome-Wide Association Studies on Primary Hypertension.

International Journal Of Endocrinology
Azam, Afifah Binti AB; Azizan, Elena Aisha Binti EAB
Publication Date: 2018

Variant appearance in text: rs8904
PubMed Link: 29666641
Variant Present in the following documents:
  • Main text
  • IJE2018-7259704.pdf
View BVdb publication page



Metaplastic breast cancer in a patient with neurofibromatosis type 1 and somatic loss of heterozygosity.

Cold Spring Harbor Molecular Case Studies
Suarez-Kelly, Lorena P LP; Akagi, Keiko K; Reeser, Julie W JW; Samorodnitsky, Eric E; Reeder, Matthew M; Smith, Amy A; Roychowdhury, Sameek S; Symer, David E DE; Carson, William E WE
Publication Date: 2018-04

Variant appearance in text: rs8904
PubMed Link: 29449315
Variant Present in the following documents:
  • supp_mcs.a002352_Supplemental_Table_3.xls, sheet 1
View BVdb publication page



Genetic studies of human neuropathic pain conditions: a review.

Pain
Zorina-Lichtenwalter, Katerina K; Parisien, Marc M; Diatchenko, Luda L
Publication Date: 2018-03

Variant appearance in text: rs8904
PubMed Link: 29240606
Variant Present in the following documents:
  • jop-159-583.pdf
View BVdb publication page



Genome-Wide Association Study of Blood Pressure Traits by Hispanic/Latino Background: the Hispanic Community Health Study/Study of Latinos.

Scientific Reports
Sofer, Tamar T; Wong, Quenna Q; Hartwig, Fernando P FP; Taylor, Kent K; Warren, Helen R HR; Evangelou, Evangelos E; Cabrera, Claudia P CP; Levy, Daniel D; Kramer, Holly H; Lange, Leslie A LA; Horta, Bernardo L BL; , ; Kerr, Kathleen F KF; Reiner, Alex P AP; Franceschini, Nora N
Publication Date: 2017-09-04

Variant appearance in text: rs8904
PubMed Link: 28871152
Variant Present in the following documents:
  • 41598_2017_9019_MOESM1_ESM.pdf
View BVdb publication page



Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney.

Hypertension (Dallas, Tex. : 1979)
Wain, Louise V LV; Vaez, Ahmad A; Jansen, Rick R; Joehanes, Roby R; van der Most, Peter J PJ; Erzurumluoglu, A Mesut AM; O'Reilly, Paul F PF; Cabrera, Claudia P CP; Warren, Helen R HR; Rose, Lynda M LM; Verwoert, Germaine C GC; Hottenga, Jouke-Jan JJ; Strawbridge, Rona J RJ; Esko, Tonu T; Arking, Dan E DE; Hwang, Shih-Jen SJ; Guo, Xiuqing X; Kutalik, Zoltan Z; Trompet, Stella S; Shrine, Nick N; Teumer, Alexander A; Ried, Janina S JS; Bis, Joshua C JC; Smith, Albert V AV; Amin, Najaf N; Nolte, Ilja M IM; Lyytikäinen, Leo-Pekka LP; Mahajan, Anubha A; Wareham, Nicholas J NJ; Hofer, Edith E; Joshi, Peter K PK; Kristiansson, Kati K; Traglia, Michela M; Havulinna, Aki S AS; Goel, Anuj A; Nalls, Mike A MA; Sõber, Siim S; Vuckovic, Dragana D; Luan, Jian'an J; Del Greco M, Fabiola F; Ayers, Kristin L KL; Marrugat, Jaume J; Ruggiero, Daniela D; Lopez, Lorna M LM; Niiranen, Teemu T; Enroth, Stefan S; Jackson, Anne U AU; Nelson, Christopher P CP; Huffman, Jennifer E JE; Zhang, Weihua W; Marten, Jonathan J; Gandin, Ilaria I; Harris, Sarah E SE; Zemunik, Tatijana T; Lu, Yingchang Y; Evangelou, Evangelos E; Shah, Nabi N; de Borst, Martin H MH; Mangino, Massimo M; Prins, Bram P BP; Campbell, Archie A; Li-Gao, Ruifang R; Chauhan, Ganesh G; Oldmeadow, Christopher C; Abecasis, Gonçalo G; Abedi, Maryam M; Barbieri, Caterina M CM; Barnes, Michael R MR; Batini, Chiara C; Beilby, John J; Blake, Tineka T; Boehnke, Michael M; Bottinger, Erwin P EP; Braund, Peter S PS; Brown, Morris M; Brumat, Marco M; Campbell, Harry H; Chambers, John C JC; Cocca, Massimiliano M; Collins, Francis F; Connell, John J; Cordell, Heather J HJ; Damman, Jeffrey J JJ; Davies, Gail G; de Geus, Eco J EJ; de Mutsert, Renée R; Deelen, Joris J; Demirkale, Yusuf Y; Doney, Alex S F ASF; Dörr, Marcus M; Farrall, Martin M; Ferreira, Teresa T; Frånberg, Mattias M; Gao, He H; Giedraitis, Vilmantas V; Gieger, Christian C; Giulianini, Franco F; Gow, Alan J AJ; Hamsten, Anders A; Harris, Tamara B TB; Hofman, Albert A; Holliday, Elizabeth G EG; Hui, Jennie J; Jarvelin, Marjo-Riitta MR; Johansson, Åsa Å; Johnson, Andrew D AD; Jousilahti, Pekka P; Jula, Antti A; Kähönen, Mika M; Kathiresan, Sekar S; Khaw, Kay-Tee KT; Kolcic, Ivana I; Koskinen, Seppo S; Langenberg, Claudia C; Larson, Marty M; Launer, Lenore J LJ; Lehne, Benjamin B; Liewald, David C M DCM; Lin, Li L; Lind, Lars L; Mach, François F; Mamasoula, Chrysovalanto C; Menni, Cristina C; Mifsud, Borbala B; Milaneschi, Yuri Y; Morgan, Anna A; Morris, Andrew D AD; Morrison, Alanna C AC; Munson, Peter J PJ; Nandakumar, Priyanka P; Nguyen, Quang Tri QT; Nutile, Teresa T; Oldehinkel, Albertine J AJ; Oostra, Ben A BA; Org, Elin E; Padmanabhan, Sandosh S; Palotie, Aarno A; Paré, Guillaume G; Pattie, Alison A; Penninx, Brenda W J H BWJH; Poulter, Neil N; Pramstaller, Peter P PP; Raitakari, Olli T OT; Ren, Meixia M; Rice, Kenneth K; Ridker, Paul M PM; Riese, Harriëtte H; Ripatti, Samuli S; Robino, Antonietta A; Rotter, Jerome I JI; Rudan, Igor I; Saba, Yasaman Y; Saint Pierre, Aude A; Sala, Cinzia F CF; Sarin, Antti-Pekka AP; Schmidt, Reinhold R; Scott, Rodney R; Seelen, Marc A MA; Shields, Denis C DC; Siscovick, David D; Sorice, Rossella R; Stanton, Alice A; Stott, David J DJ; Sundström, Johan J; Swertz, Morris M; Taylor, Kent D KD; Thom, Simon S; Tzoulaki, Ioanna I; Tzourio, Christophe C; Uitterlinden, André G AG; Völker, Uwe U; Vollenweider, Peter P; Wild, Sarah S; Willemsen, Gonneke G; Wright, Alan F AF; Yao, Jie J; Thériault, Sébastien S; Conen, David D; Attia, John J; Sever, Peter P; Debette, Stéphanie S; Mook-Kanamori, Dennis O DO; Zeggini, Eleftheria E; Spector, Tim D TD; van der Harst, Pim P; Palmer, Colin N A CNA; Vergnaud, Anne-Claire AC; Loos, Ruth J F RJF; Polasek, Ozren O; Starr, John M JM; Girotto, Giorgia G; Hayward, Caroline C; Kooner, Jaspal S JS; Lindgren, Cecila M CM; Vitart, Veronique V; Samani, Nilesh J NJ; Tuomilehto, Jaakko J; Gyllensten, Ulf U; Knekt, Paul P; Deary, Ian J IJ; Ciullo, Marina M; Elosua, Roberto R; Keavney, Bernard D BD; Hicks, Andrew A AA; Scott, Robert A RA; Gasparini, Paolo P; Laan, Maris M; Liu, YongMei Y; Watkins, Hugh H; Hartman, Catharina A CA; Salomaa, Veikko V; Toniolo, Daniela D; Perola, Markus M; Wilson, James F JF; Schmidt, Helena H; Zhao, Jing Hua JH; Lehtimäki, Terho T; van Duijn, Cornelia M CM; Gudnason, Vilmundur V; Psaty, Bruce M BM; Peters, Annette A; Rettig, Rainer R; James, Alan A; Jukema, J Wouter JW; Strachan, David P DP; Palmas, Walter W; Metspalu, Andres A; Ingelsson, Erik E; Boomsma, Dorret I DI; Franco, Oscar H OH; Bochud, Murielle M; Newton-Cheh, Christopher C; Munroe, Patricia B PB; Elliott, Paul P; Chasman, Daniel I DI; Chakravarti, Aravinda A; Knight, Joanne J; Morris, Andrew P AP; Levy, Daniel D; Tobin, Martin D MD; Snieder, Harold H; Caulfield, Mark J MJ; Ehret, Georg B GB
Publication Date: 2017-07-24

Variant appearance in text: rs8904
PubMed Link: 28739976
Variant Present in the following documents:
  • Main text
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: rs8904
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases
Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ
Publication Date: 2017-05-23

Variant appearance in text: rs8904
PubMed Link: 28535796
Variant Present in the following documents:
  • 13023_2017_647_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page



Impact of single-nucleotide polymorphisms on radiation pneumonitis in cancer patients.

Molecular And Clinical Oncology
Guo, Cheng-Xian CX; Wang, Jing J; Huang, Li-Hua LH; Li, Jin-Gao JG; Chen, Xiang X
Publication Date: 2016-01

Variant appearance in text: rs8904
PubMed Link: 26870349
Variant Present in the following documents:
  • Main text
View BVdb publication page



Hypomorphic function and somatic reversion of DOCK8 cause combined immunodeficiency without hyper-IgE.

Clinical Immunology (Orlando, Fla.)
Kienzler, Anne-Kathrin AK; van Schouwenburg, Pauline A PA; Taylor, John J; Marwah, Ishita I; Sharma, Richa U RU; Noakes, Charlotte C; Thomson, Kate K; Sadler, Ross R; Segal, Shelley S; Ferry, Berne B; Taylor, Jenny C JC; Blair, Edward E; Chapel, Helen H; Patel, Smita Y SY
Publication Date: 2016-02

Variant appearance in text: rs8904
PubMed Link: 26680607
Variant Present in the following documents:
  • mmc2.xlsx, sheet 4
  • mmc2.xlsx, sheet 2
  • mmc2.xlsx, sheet 3
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Associations between single nucleotide polymorphisms in the FAS pathway and acute kidney injury.

Critical Care (London, England)
Bhatraju, Pavan P; Hsu, Christine C; Mukherjee, Paramita P; Glavan, Bradford J BJ; Burt, Amber A; Mikacenic, Carmen C; Himmelfarb, Jonathan J; Wurfel, Mark M
Publication Date: 2015-10-19

Variant appearance in text: rs8904
PubMed Link: 26477820
Variant Present in the following documents:
  • Main text
  • 13054_2015_Article_1084.pdf
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Candidate gene association studies and risk of Hodgkin lymphoma: a systematic review and meta-analysis.

Hematological Oncology
Sud, Amit A; Hemminki, Kari K; Houlston, Richard S RS
Publication Date: 2017-03

Variant appearance in text: rs8904
PubMed Link: 26053036
Variant Present in the following documents:
  • Main text
View BVdb publication page



A Conceptual Model of Psychoneurological Symptom Cluster Variation in Women with Breast Cancer: Bringing Nursing Research to Personalized Medicine.

Current Pharmacogenomics And Personalized Medicine
Starkweather, Angela R AR; Lyon, Debra E DE; Elswick, R K RK; Montpetit, Alison J AJ; Conley, Yvette Y; McCain, Nancy L NL
Publication Date: 2013-09

Variant appearance in text: rs8904
PubMed Link: 24497894
Variant Present in the following documents:
  • Main text
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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: rs8904
PubMed Link: 24490137
Variant Present in the following documents:
  • mmc5.xlsx, sheet 2
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Application of multi-SNP approaches Bayesian LASSO and AUC-RF to detect main effects of inflammatory-gene variants associated with bladder cancer risk.

Plos One
de Maturana, Evangelina López EL; Ye, Yuanqing Y; Calle, M Luz ML; Rothman, Nathaniel N; Urrea, Víctor V; Kogevinas, Manolis M; Petrus, Sandra S; Chanock, Stephen J SJ; Tardón, Adonina A; García-Closas, Montserrat M; González-Neira, Anna A; Vellalta, Gemma G; Carrato, Alfredo A; Navarro, Arcadi A; Lorente-Galdós, Belén B; Silverman, Debra T DT; Real, Francisco X FX; Wu, Xifeng X; Malats, Núria N
Publication Date: 2013

Variant appearance in text: rs8904
PubMed Link: 24391818
Variant Present in the following documents:
  • Main text
  • pone.0083745.pdf
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Genetic variants in inflammation-related genes are associated with radiation-induced toxicity following treatment for non-small cell lung cancer.

Plos One
Hildebrandt, Michelle A T MA; Komaki, Ritsuko R; Liao, Zhongxing Z; Gu, Jian J; Chang, Joe Y JY; Ye, Yuanqing Y; Lu, Charles C; Stewart, David J DJ; Minna, John D JD; Roth, Jack A JA; Lippman, Scott M SM; Cox, James D JD; Hong, Waun Ki WK; Spitz, Margaret R MR; Wu, Xifeng X
Publication Date: 2010-08-25

Variant appearance in text: rs8904
PubMed Link: 20811626
Variant Present in the following documents:
  • Main text
  • pone.0012402.pdf
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Variant in the 3' region of the IkappaBalpha gene associated with insulin resistance in Hispanic Americans: The IRAS Family Study.

Obesity (Silver Spring, Md.)
Miller, Melissa R MR; Zhang, Weiming W; Sibbel, Scott P SP; Langefeld, Carl D CD; Bowden, Donald W DW; Haffner, Steven M SM; Bergman, Richard N RN; Norris, Jill M JM; Fingerlin, Tasha E TE
Publication Date: 2010-03

Variant appearance in text: rs8904
PubMed Link: 19798070
Variant Present in the following documents:
  • Main text
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Role of inflammation gene polymorphisms on pain severity in lung cancer patients.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Reyes-Gibby, Cielito C CC; Spitz, Margaret R MR; Yennurajalingam, Sriram S; Swartz, Michael M; Gu, Jian J; Wu, Xifeng X; Bruera, Eduardo E; Shete, Sanjay S
Publication Date: 2009-10

Variant appearance in text: rs8904
PubMed Link: 19773451
Variant Present in the following documents:
  • Main text
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Polymorphisms in NF-kappaB inhibitors and risk of epithelial ovarian cancer.

Bmc Cancer
White, Kristin L KL; Vierkant, Robert A RA; Phelan, Catherine M CM; Fridley, Brooke L BL; Anderson, Stephanie S; Knutson, Keith L KL; Schildkraut, Joellen M JM; Cunningham, Julie M JM; Kelemen, Linda E LE; Pankratz, V Shane VS; Rider, David N DN; Liebow, Mark M; Hartmann, Lynn C LC; Sellers, Thomas A TA; Goode, Ellen L EL
Publication Date: 2009-06-06

Variant appearance in text: rs8904
PubMed Link: 19500386
Variant Present in the following documents:
  • Main text
  • 1471-2407-9-170.pdf
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Polymorphic variation in NFKB1 and other aspirin-related genes and risk of Hodgkin lymphoma.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Chang, Ellen T ET; Birmann, Brenda M BM; Kasperzyk, Julie L JL; Conti, David V DV; Kraft, Peter P; Ambinder, Richard F RF; Zheng, Tongzhang T; Mueller, Nancy E NE
Publication Date: 2009-03

Variant appearance in text: rs8904
PubMed Link: 19223558
Variant Present in the following documents:
  • Main text
View BVdb publication page



Toll-like receptor 1 polymorphisms affect innate immune responses and outcomes in sepsis.

American Journal Of Respiratory And Critical Care Medicine
Wurfel, Mark M MM; Gordon, Anthony C AC; Holden, Tarah D TD; Radella, Frank F; Strout, Jeanna J; Kajikawa, Osamu O; Ruzinski, John T JT; Rona, Gail G; Black, R Anthony RA; Stratton, Seth S; Jarvik, Gail P GP; Hajjar, Adeline M AM; Nickerson, Deborah A DA; Rieder, Mark M; Sevransky, Jonathan J; Maloney, James P JP; Moss, Marc M; Martin, Greg G; Shanholtz, Carl C; Garcia, Joe G N JG; Gao, Li L; Brower, Roy R; Barnes, Kathleen C KC; Walley, Keith R KR; Russell, James A JA; Martin, Thomas R TR
Publication Date: 2008-10-01

Variant appearance in text: rs8904
PubMed Link: 18635889
Variant Present in the following documents:
  • Main text
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Genomewide high-density SNP linkage analysis of 236 Japanese families supports the existence of schizophrenia susceptibility loci on chromosomes 1p, 14q, and 20p.

American Journal Of Human Genetics
Arinami, Tadao T; Ohtsuki, Tsuyuka T; Ishiguro, Hiroki H; Ujike, Hiroshi H; Tanaka, Yuji Y; Morita, Yukitaka Y; Mineta, Mari M; Takeichi, Masashi M; Yamada, Shigeto S; Imamura, Akira A; Ohara, Koichi K; Shibuya, Haruo H; Ohara, Kenshiro K; Suzuki, Yasuo Y; Muratake, Tatsuyuki T; Kaneko, Naoshi N; Someya, Toshiyuki T; Inada, Toshiya T; Yoshikawa, Takeo T; Toyota, Tomoko T; Yamada, Kazuo K; Kojima, Takuya T; Takahashi, Sakae S; Osamu, Ohmori O; Shinkai, Takahiro T; Nakamura, Michiko M; Fukuzako, Hiroshi H; Hashiguchi, Tomo T; Niwa, Shin-ich SI; Ueno, Takuya T; Tachikawa, Hirokazu H; Hori, Takafumi T; Asada, Takashi T; Nanko, Shinichiro S; Kunugi, Hiroshi H; Hashimoto, Ryota R; Ozaki, Norio N; Iwata, Nakao N; Harano, Mutsuo M; Arai, Heii H; Ohnuma, Tohru T; Kusumi, Ichiro I; Koyama, Tsukasa T; Yoneda, Hiroshi H; Fukumaki, Yasuyuki Y; Shibata, Hiroki H; Kaneko, Sunao S; Higuchi, Hisashi H; Yasui-Furukori, Norio N; Numachi, Yohtaro Y; Itokawa, Masanari M; Okazaki, Yuji Y; ,
Publication Date: 2005-12

Variant appearance in text: rs8904
PubMed Link: 16380906
Variant Present in the following documents:
  • Main text
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Analysis of sequence variations in several human genes using phosphoramidite bond DNA fragmentation and chip-based MALDI-TOF.

Genome Research
Smylie, Kevin J KJ; Cantor, Charles R CR; Denissenko, Mikhail F MF
Publication Date: 2004-01

Variant appearance in text: rs8904
PubMed Link: 14707175
Variant Present in the following documents:
  • Main text
View BVdb publication page