HLA-DQB1 c.650C>A ;(p.T217N)

Variant ID: 6-32629755-G-T

NM_002123.4(HLA-DQB1):c.650C>A;(p.T217N)

This variant was identified in 11 publications

View GRCh38 version.




Publications:


MHC Variants Associated With Symptomatic Versus Asymptomatic SARS-CoV-2 Infection in Highly Exposed Individuals.

Frontiers In Immunology
Castelli, Erick C EC; de Castro, Mateus V MV; Naslavsky, Michel S MS; Scliar, Marilia O MO; Silva, Nayane S B NSB; Andrade, Heloisa S HS; Souza, Andreia S AS; Pereira, Raphaela N RN; Castro, Camila F B CFB; Mendes-Junior, Celso T CT; Meyer, Diogo D; Nunes, Kelly K; Matos, Larissa R B LRB; Silva, Monize V R MVR; Wang, Jaqueline Y T JYT; Esposito, Joyce J; Coria, Vivian R VR; Bortolin, Raul H RH; Hirata, Mario H MH; Magawa, Jhosiene Y JY; Cunha-Neto, Edecio E; Coelho, VerĂ´nica V; Santos, Keity S KS; Marin, Maria Lucia C MLC; Kalil, Jorge J; Mitne-Neto, Miguel M; Maciel, Rui M B RMB; Passos-Bueno, Maria Rita MR; Zatz, Mayana M
Publication Date: 2021

Variant appearance in text: rs1130399
PubMed Link: 34650566
Variant Present in the following documents:
  • Table_3.xlsx, sheet 4
  • Table_3.xlsx, sheet 5
  • Table_3.xlsx, sheet 3
  • Table_3.xlsx, sheet 1
  • Table_3.xlsx, sheet 2
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Important roles of the human leukocyte antigen class I and II molecules and their associated genes in the autoimmune coagulation factor XIII deficiency via whole-exome sequencing analysis.

Plos One
Osaki, Tsukasa T; Souri, Masayoshi M; Ichinose, Akitada A
Publication Date: 2021

Variant appearance in text: rs1130399
PubMed Link: 34506591
Variant Present in the following documents:
  • Main text
  • pone.0257322.pdf
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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: rs1130399
PubMed Link: 33791233
Variant Present in the following documents:
  • Table_2.xlsx, sheet 1
View BVdb publication page



The Human Leukocyte Antigen Locus and Rheumatic Heart Disease Susceptibility in South Asians and Europeans.

Scientific Reports
Auckland, Kathryn K; Mittal, Balraj B; Cairns, Benjamin J BJ; Garg, Naveen N; Kumar, Surendra S; Mentzer, Alexander J AJ; Kado, Joseph J; Perman, Mai Ling ML; Steer, Andrew C AC; Hill, Adrian V S AVS; Parks, Tom T
Publication Date: 2020-06-02

Variant appearance in text: rs1130399
PubMed Link: 32488134
Variant Present in the following documents:
  • Main text
  • 41598_2020_Article_65855.pdf
View BVdb publication page



Genetic Variants in Antineutrophil Cytoplasmic Antibody-Associated Vasculitis: A Bayesian Approach and Systematic Review.

Journal Of Clinical Medicine
Lee, Kwang Seob KS; Kronbichler, Andreas A; Pereira Vasconcelos, Daniel Fernando DF; Pereira da Silva, Felipe Rodolfo FR; Ko, Younhee Y; Oh, Yeon Su YS; Eisenhut, Michael M; Merkel, Peter A PA; Jayne, David D; Amos, Christopher I CI; Siminovitch, Katherine A KA; Rahmattulla, Chinar C; Lee, Keum Hwa KH; Shin, Jae Il JI
Publication Date: 2019-02-21

Variant appearance in text: rs1130399
PubMed Link: 30795559
Variant Present in the following documents:
  • jcm-08-00266-s001.pdf
View BVdb publication page



Genome-wide association pathway analysis to identify candidate single nucleotide polymorphisms and molecular pathways associated with TP53 expression status in HBV-related hepatocellular carcinoma.

Cancer Management And Research
Liao, Xiwen X; Yu, Long L; Liu, Xiaoguang X; Han, Chuangye C; Yu, Tingdong T; Qin, Wei W; Yang, Chengkun C; Zhu, Guangzhi G; Su, Hao H; Peng, Tao T
Publication Date: 2018

Variant appearance in text: rs1130399
PubMed Link: 29760565
Variant Present in the following documents:
  • Main text
  • cmar-10-953.pdf
View BVdb publication page



PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger.

American Journal Of Human Genetics
Verma, Anurag A; Lucas, Anastasia A; Verma, Shefali S SS; Zhang, Yu Y; Josyula, Navya N; Khan, Anqa A; Hartzel, Dustin N DN; Lavage, Daniel R DR; Leader, Joseph J; Ritchie, Marylyn D MD; Pendergrass, Sarah A SA
Publication Date: 2018-04-05

Variant appearance in text: rs1130399
PubMed Link: 29606303
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: rs1130399
PubMed Link: 28690861
Variant Present in the following documents:
  • hgv201727-s1.xls, sheet 1
View BVdb publication page



Identification of Functional and Expression Polymorphisms Associated With Risk for Antineutrophil Cytoplasmic Autoantibody-Associated Vasculitis.

Arthritis & Rheumatology (Hoboken, N.J.)
Merkel, Peter A PA; Xie, Gang G; Monach, Paul A PA; Ji, Xuemei X; Ciavatta, Dominic J DJ; Byun, Jinyoung J; Pinder, Benjamin D BD; Zhao, Ai A; Zhang, Jinyi J; Tadesse, Yohannes Y; Qian, David D; Weirauch, Matthew M; Nair, Rajan R; Tsoi, Alex A; Pagnoux, Christian C; Carette, Simon S; Chung, Sharon S; Cuthbertson, David D; Davis, John C JC; Dellaripa, Paul F PF; Forbess, Lindsy L; Gewurz-Singer, Ora O; Hoffman, Gary S GS; Khalidi, Nader N; Koening, Curry C; Langford, Carol A CA; Mahr, Alfred D AD; McAlear, Carol C; Moreland, Larry L; Seo, E Philip EP; Specks, Ulrich U; Spiera, Robert F RF; Sreih, Antoine A; St Clair, E William EW; Stone, John H JH; Ytterberg, Steven R SR; Elder, James T JT; Qu, Jia J; Ochi, Toshiki T; Hirano, Naoto N; Edberg, Jeffrey C JC; Falk, Ronald J RJ; Amos, Christopher I CI; Siminovitch, Katherine A KA; ,
Publication Date: 2017-05

Variant appearance in text: rs1130399
PubMed Link: 28029757
Variant Present in the following documents:
  • ART-69-1054-s002.pdf
View BVdb publication page



The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Nucleic Acids Research
Tang, Xiaojia X; Baheti, Saurabh S; Shameer, Khader K; Thompson, Kevin J KJ; Wills, Quin Q; Niu, Nifang N; Holcomb, Ilona N IN; Boutet, Stephane C SC; Ramakrishnan, Ramesh R; Kachergus, Jennifer M JM; Kocher, Jean-Pierre A JP; Weinshilboum, Richard M RM; Wang, Liewei L; Thompson, E Aubrey EA; Kalari, Krishna R KR
Publication Date: 2014-12-16

Variant appearance in text: rs1130399
PubMed Link: 25352556
Variant Present in the following documents:
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 20
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 14
  • supp_gku1005_nar-01266-met-n-2014-File012.xlsx, sheet 19
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Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO
Publication Date: 2013-03

Variant appearance in text: rs1130399
PubMed Link: 23555315
Variant Present in the following documents:
  • pgen.1003419.s009.xlsx, sheet 1
View BVdb publication page