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rs33996649

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in complete genomics
Make rs33996649(C;T)
Make rs33996649(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position113852067
GenePTPN22, RP5-1073O3.2
is asnp
is mentioned by
dbSNPrs33996649
ebirs33996649
HLIrs33996649
Exacrs33996649
Varsomers33996649
Maprs33996649
PheGenIrs33996649
hapmaprs33996649
1000 genomesrs33996649
hgdprs33996649
ensemblrs33996649
gopubmedrs33996649
geneviewrs33996649
scholarrs33996649
googlers33996649
pharmgkbrs33996649
gwascentralrs33996649
openSNPrs33996649
23andMers33996649
23andMe allrs33996649
SNP Nexus

SNPshotrs33996649
SNPdbers33996649
MSV3drs33996649
GWAS Ctlgrs33996649
GMAF0.0124
Max Magnitude0
OMIM600716
DescPROTEIN TYROSINE PHOSPHATASE, NONRECEPTOR-TYPE, 22; PTPN22
Variant
Relatedalso
[PMID 21131644OA-icon.png] Analysis of the influence of PTPN22 gene polymorphisms in systemic sclerosis


[PMID 21287672] Differential association of two PTPN22 coding variants with Crohn's disease and ulcerative colitis

OMIM152700
Desc
Variant
Relatedalso
[PMID 16175503OA-icon.png] PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis.

[PMID 21193990] A PTPN22 promoter polymorphism -1123G>C is associated with RA pathogenesis in Chinese.

[PMID 21279993] The PTPN22 R263Q polymorphism is a risk factor for rheumatoid arthritis in Caucasian case-control samples.


GET Evidence
PTPN22-R263Q
aa_change Arg263Gln
aa_change_short R263Q
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0163599
summary



[PMID 23450494] [Association of polymorphisms of PTPN22 and PADI4 genes with rheumatoid arthritis in Yunnan]


[PMID 23946333OA-icon.png] Identification of the PTPN22 functional variant R620W as susceptibility genetic factor for giant cell arteritis


[PMID 25073032] Association Between a Gain-of-Function Variant of PTPN22 and Rejection in Liver Transplantation