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PTPN22 c.67G>A ;(p.E23K)
Variant ID: 1-114414179-C-T
NM_015967.5(
PTPN22
):c.67G>A;(p.E23K)
This variant was identified in 5 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Systematic Review of Polygenic Risk Scores for Type 1 and Type 2 Diabetes.
International Journal Of Molecular Sciences
Padilla-MartÃnez, Felipe F; Collin, Francois F; Kwasniewski, Miroslaw M; Kretowski, Adam A
Publication Date: 2020-03-02
Variant appearance in text: PTPN22: E23K
PubMed Link:
32131491
Variant Present in the following documents:
ijms-21-01703.pdf
View BVdb publication page
Genetic Risk Scores for Diabetes Diagnosis and Precision Medicine.
Endocrine Reviews
Udler, Miriam S MS; McCarthy, Mark I MI; Florez, Jose C JC; Mahajan, Anubha A
Publication Date: 2019-12-01
Variant appearance in text: PTPN22: E23K
PubMed Link:
31322649
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: PTPN22: E23K
PubMed Link:
25774817
Variant Present in the following documents:
Main text
genes-06-00087.pdf
View BVdb publication page
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls.
Nature
,
Publication Date: 2007-06-07
Variant appearance in text: PTPN22: E23K
PubMed Link:
17554300
Variant Present in the following documents:
Main text
View BVdb publication page
Genetic epidemiology of diabetes.
The Journal Of Clinical Investigation
Permutt, M Alan MA; Wasson, Jonathon J; Cox, Nancy N
Publication Date: 2005-06
Variant appearance in text: PTPN22: E23K
PubMed Link:
15931378
Variant Present in the following documents:
Main text
View BVdb publication page