GPANK1 c.122G>A ;(p.R41Q)

Variant ID: 6-31632134-C-T

NM_033177.3(GPANK1):c.122G>A;(p.R41Q)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


Exome-wide association analysis of CT imaging-derived hepatic fat in a medical biobank.

Cell Reports. Medicine
Park, Joseph J; MacLean, Matthew T MT; Lucas, Anastasia M AM; Torigian, Drew A DA; Schneider, Carolin V CV; Cherlin, Tess T; Xiao, Brenda B; Miller, Jason E JE; Bradford, Yuki Y; Judy, Renae L RL; , ; Verma, Anurag A; Damrauer, Scott M SM; Ritchie, Marylyn D MD; Witschey, Walter R WR; Rader, Daniel J DJ
Publication Date: 2022-12-06

Variant appearance in text: rs3130618
PubMed Link: 36513072
Variant Present in the following documents:
  • Main text
  • mmc3.xlsx, sheet 1
  • mmc8.pdf
  • main.pdf
View BVdb publication page



Whole Exome Sequencing Revealed Variants That Predict Pulmonary Artery Involvement in Patients with Takayasu Arteritis.

Journal Of Inflammation Research
Liu, Lingyu L; Chen, Jing J; Li, Jing J; Yang, Yunjiao Y; Zeng, Xiaofeng X; Tian, Xinping X
Publication Date: 2022

Variant appearance in text: rs3130618
PubMed Link: 36046661
Variant Present in the following documents:
  • Main text
  • jir-15-4817.pdf
View BVdb publication page



Continental-scale genomic analysis suggests shared post-admixture adaptation in the Americas.

Human Molecular Genetics
Ongaro, Linda L; Mondal, Mayukh M; Flores, Rodrigo R; Marnetto, Davide D; Molinaro, Ludovica L; Alarcón-Riquelme, Marta E ME; Moreno-Estrada, Andrés A; Mabunda, Nedio N; Ventura, Mario M; Tambets, Kristiina K; Hellenthal, Garrett G; Capelli, Cristian C; Kivisild, Toomas T; Metspalu, Mait M; Pagani, Luca L; Montinaro, Francesco F
Publication Date: 2021-11-01

Variant appearance in text: rs3130618
PubMed Link: 34196708
Variant Present in the following documents:
  • Main text
  • ddab177.pdf
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: rs3130618
PubMed Link: 32313182
Variant Present in the following documents:
  • 42003_2020_885_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.

Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Publication Date: 2019-09-12

Variant appearance in text: rs3130618
PubMed Link: 31515488
Variant Present in the following documents:
  • 41467_2019_11959_MOESM6_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: rs3130618
PubMed Link: 30705251
Variant Present in the following documents:
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: rs3130618
PubMed Link: 30378292
Variant Present in the following documents:
  • CAM4-7-6308-s006.xlsx, sheet 1
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: rs3130618
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Bmc Medical Genomics
Calender, Alain A; Rollat Farnier, Pierre Antoine PA; Buisson, Adrien A; Pinson, Stéphane S; Bentaher, Abderrazzaq A; Lebecque, Serge S; Corvol, Harriet H; Abou Taam, Rola R; Houdouin, Véronique V; Bardel, Claire C; Roy, Pascal P; Devouassoux, Gilles G; Cottin, Vincent V; Seve, Pascal P; Bernaudin, Jean-François JF; Lim, Clarice X CX; Weichhart, Thomas T; Valeyre, Dominique D; Pacheco, Yves Y; Clement, Annick A; Nathan, Nadia N; ,
Publication Date: 2018-03-06

Variant appearance in text: rs3130618
PubMed Link: 29510755
Variant Present in the following documents:
  • 12920_2018_338_MOESM6_ESM.xlsx, sheet 3
View BVdb publication page



Item-level analyses reveal genetic heterogeneity in neuroticism.

Nature Communications
Nagel, Mats M; Watanabe, Kyoko K; Stringer, Sven S; Posthuma, Danielle D; van der Sluis, Sophie S
Publication Date: 2018-03-02

Variant appearance in text: rs3130618
PubMed Link: 29500382
Variant Present in the following documents:
  • Main text
  • 41467_2018_Article_3242.pdf
View BVdb publication page



Genetic epidemiology in kidney disease.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association
Ainsworth, Hannah C HC; Langefeld, Carl D CD; Freedman, Barry I BI
Publication Date: 2017-04-01

Variant appearance in text: rs3130618
PubMed Link: 28201750
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: rs3130618
PubMed Link: 27964746
Variant Present in the following documents:
  • 13073_2016_383_MOESM1_ESM.pdf
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: rs3130618
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



GWAS identifies novel SLE susceptibility genes and explains the association of the HLA region.

Genes And Immunity
Armstrong, D L DL; Zidovetzki, R R; Alarcón-Riquelme, M E ME; Tsao, B P BP; Criswell, L A LA; Kimberly, R P RP; Harley, J B JB; Sivils, K L KL; Vyse, T J TJ; Gaffney, P M PM; Langefeld, C D CD; Jacob, C O CO
Publication Date: 2014-09

Variant appearance in text: rs3130618
PubMed Link: 24871463
Variant Present in the following documents:
  • NIHMS583203-supplement-1.pdf
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: rs3130618
PubMed Link: 24784026
Variant Present in the following documents:
  • NIHMS580846-supplement-1.xlsx, sheet 2
  • NIHMS580846-supplement-1.xlsx, sheet 3
View BVdb publication page



A genome-wide integrative genomic study localizes genetic factors influencing antibodies against Epstein-Barr virus nuclear antigen 1 (EBNA-1).

Plos Genetics
Rubicz, Rohina R; Yolken, Robert R; Drigalenko, Eugene E; Carless, Melanie A MA; Dyer, Thomas D TD; Bauman, Lara L; Melton, Phillip E PE; Kent, Jack W JW; Harley, John B JB; Curran, Joanne E JE; Johnson, Matthew P MP; Cole, Shelley A SA; Almasy, Laura L; Moses, Eric K EK; Dhurandhar, Nikhil V NV; Kraig, Ellen E; Blangero, John J; Leach, Charles T CT; Göring, Harald H H HH
Publication Date: 2013

Variant appearance in text: rs3130618
PubMed Link: 23326239
Variant Present in the following documents:
  • Main text
  • pgen.1003147.pdf
View BVdb publication page



Genome-wide association and large-scale follow up identifies 16 new loci influencing lung function.

Nature Genetics
Soler Artigas, María M; Loth, Daan W DW; Wain, Louise V LV; Gharib, Sina A SA; Obeidat, Ma'en M; Tang, Wenbo W; Zhai, Guangju G; Zhao, Jing Hua JH; Smith, Albert Vernon AV; Huffman, Jennifer E JE; Albrecht, Eva E; Jackson, Catherine M CM; Evans, David M DM; Cadby, Gemma G; Fornage, Myriam M; Manichaikul, Ani A; Lopez, Lorna M LM; Johnson, Toby T; Aldrich, Melinda C MC; Aspelund, Thor T; Barroso, Inês I; Campbell, Harry H; Cassano, Patricia A PA; Couper, David J DJ; Eiriksdottir, Gudny G; Franceschini, Nora N; Garcia, Melissa M; Gieger, Christian C; Gislason, Gauti Kjartan GK; Grkovic, Ivica I; Hammond, Christopher J CJ; Hancock, Dana B DB; Harris, Tamara B TB; Ramasamy, Adaikalavan A; Heckbert, Susan R SR; Heliövaara, Markku M; Homuth, Georg G; Hysi, Pirro G PG; James, Alan L AL; Jankovic, Stipan S; Joubert, Bonnie R BR; Karrasch, Stefan S; Klopp, Norman N; Koch, Beate B; Kritchevsky, Stephen B SB; Launer, Lenore J LJ; Liu, Yongmei Y; Loehr, Laura R LR; Lohman, Kurt K; Loos, Ruth J F RJ; Lumley, Thomas T; Al Balushi, Khalid A KA; Ang, Wei Q WQ; Barr, R Graham RG; Beilby, John J; Blakey, John D JD; Boban, Mladen M; Boraska, Vesna V; Brisman, Jonas J; Britton, John R JR; Brusselle, Guy G GG; Cooper, Cyrus C; Curjuric, Ivan I; Dahgam, Santosh S; Deary, Ian J IJ; Ebrahim, Shah S; Eijgelsheim, Mark M; Francks, Clyde C; Gaysina, Darya D; Granell, Raquel R; Gu, Xiangjun X; Hankinson, John L JL; Hardy, Rebecca R; Harris, Sarah E SE; Henderson, John J; Henry, Amanda A; Hingorani, Aroon D AD; Hofman, Albert A; Holt, Patrick G PG; Hui, Jennie J; Hunter, Michael L ML; Imboden, Medea M; Jameson, Karen A KA; Kerr, Shona M SM; Kolcic, Ivana I; Kronenberg, Florian F; Liu, Jason Z JZ; Marchini, Jonathan J; McKeever, Tricia T; Morris, Andrew D AD; Olin, Anna-Carin AC; Porteous, David J DJ; Postma, Dirkje S DS; Rich, Stephen S SS; Ring, Susan M SM; Rivadeneira, Fernando F; Rochat, Thierry T; Sayer, Avan Aihie AA; Sayers, Ian I; Sly, Peter D PD; Smith, George Davey GD; Sood, Akshay A; Starr, John M JM; Uitterlinden, André G AG; Vonk, Judith M JM; Wannamethee, S Goya SG; Whincup, Peter H PH; Wijmenga, Cisca C; Williams, O Dale OD; Wong, Andrew A; Mangino, Massimo M; Marciante, Kristin D KD; McArdle, Wendy L WL; Meibohm, Bernd B; Morrison, Alanna C AC; North, Kari E KE; Omenaas, Ernst E; Palmer, Lyle J LJ; Pietiläinen, Kirsi H KH; Pin, Isabelle I; Pola Sbreve Ek, Ozren O; Pouta, Anneli A; Psaty, Bruce M BM; Hartikainen, Anna-Liisa AL; Rantanen, Taina T; Ripatti, Samuli S; Rotter, Jerome I JI; Rudan, Igor I; Rudnicka, Alicja R AR; Schulz, Holger H; Shin, So-Youn SY; Spector, Tim D TD; Surakka, Ida I; Vitart, Veronique V; Völzke, Henry H; Wareham, Nicholas J NJ; Warrington, Nicole M NM; Wichmann, H-Erich HE; Wild, Sarah H SH; Wilk, Jemma B JB; Wjst, Matthias M; Wright, Alan F AF; Zgaga, Lina L; Zemunik, Tatijana T; Pennell, Craig E CE; Nyberg, Fredrik F; Kuh, Diana D; Holloway, John W JW; Boezen, H Marike HM; Lawlor, Debbie A DA; Morris, Richard W RW; Probst-Hensch, Nicole N; , ; , ; Kaprio, Jaakko J; Wilson, James F JF; Hayward, Caroline C; Kähönen, Mika M; Heinrich, Joachim J; Musk, Arthur W AW; Jarvis, Deborah L DL; Gläser, Sven S; Järvelin, Marjo-Riitta MR; Ch Stricker, Bruno H BH; Elliott, Paul P; O'Connor, George T GT; Strachan, David P DP; London, Stephanie J SJ; Hall, Ian P IP; Gudnason, Vilmundur V; Tobin, Martin D MD
Publication Date: 2011-09-25

Variant appearance in text: rs3130618
PubMed Link: 21946350
Variant Present in the following documents:
  • NIHMS335195-supplement-4.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: rs3130618
PubMed Link: 19143815
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variants in major histocompatibility complex-linked genes associate with pediatric liver transplant rejection.

Gastroenterology
Sindhi, Rakesh R; Higgs, Brandon W BW; Weeks, Daniel E DE; Ashokkumar, Chethan C; Jaffe, Ronald R; Kim, Cecilia C; Wilson, Patrick P; Chien, Nydia N; Glessner, Joseph J; Talukdar, Anjan A; Mazariegos, George G; Barmada, M Michael MM; Frackleton, Edward E; Petro, Nancy N; Eckert, Andrew A; Hakonarson, Hakon H; Ferrell, Robert R
Publication Date: 2008-09

Variant appearance in text: rs3130618
PubMed Link: 18639552
Variant Present in the following documents:
  • Main text
View BVdb publication page