PTPN22 c.541-117G>A

Variant ID: 1-114397788-C-T

NM_015967.5(PTPN22):c.541-117G>A

This variant was identified in 5 publications

View GRCh38 version.




Publications:


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: PTPN22: 541-117G>A; rs3789608
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_6.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Influence of molecular genetics in Vogt-Koyanagi-Harada disease.

Journal Of Ophthalmic Inflammation And Infection
Ng, Joanne Yw JY; Luk, Fiona Oj FO; Lai, Timothy Yy TY; Pang, Chi-Pui CP
Publication Date: 2014

Variant appearance in text: rs3789608
PubMed Link: 25097674
Variant Present in the following documents:
  • Main text
View BVdb publication page



A functional variant of PTPN22 confers risk for Vogt-Koyanagi-Harada syndrome but not for ankylosing spondylitis.

Plos One
Zhang, Qi Q; Qi, Jian J; Hou, Shengping S; Du, Liping L; Yu, Hongsong H; Cao, Qingfeng Q; Zhou, Yan Y; Liao, Dan D; Kijlstra, Aize A; Yang, Peizeng P
Publication Date: 2014

Variant appearance in text: rs3789608
PubMed Link: 24816862
Variant Present in the following documents:
  • Main text
  • pone.0096943.pdf
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Evaluation of PTPN22 polymorphisms and Vogt-Koyanagi-Harada disease in Japanese patients.

Molecular Vision
Horie, Yukihiro Y; Kitaichi, Nobuyoshi N; Katsuyama, Yoshihiko Y; Yoshida, Kazuhiko K; Miura, Toshie T; Ota, Masao M; Asukata, Yuri Y; Inoko, Hidetoshi H; Mizuki, Nobuhisa N; Ishida, Susumu S; Ohno, Shigeaki S
Publication Date: 2009-06-03

Variant appearance in text: rs3789608
PubMed Link: 19503742
Variant Present in the following documents:
  • Main text
  • mv-v15-1115.pdf
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PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis.

American Journal Of Human Genetics
Carlton, Victoria E H VE; Hu, Xiaolan X; Chokkalingam, Anand P AP; Schrodi, Steven J SJ; Brandon, Rhonda R; Alexander, Heather C HC; Chang, Monica M; Catanese, Joseph J JJ; Leong, Diane U DU; Ardlie, Kristin G KG; Kastner, Daniel L DL; Seldin, Michael F MF; Criswell, Lindsey A LA; Gregersen, Peter K PK; Beasley, Ellen E; Thomson, Glenys G; Amos, Christopher I CI; Begovich, Ann B AB
Publication Date: 2005-10

Variant appearance in text: rs3789608
PubMed Link: 16175503
Variant Present in the following documents:
  • Main text
View BVdb publication page