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rs137852679

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852679(G;T)
Make rs137852679(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position190983699
GeneSTAT1
is asnp
is mentioned by
dbSNPrs137852679
ebirs137852679
HLIrs137852679
Exacrs137852679
Varsomers137852679
Maprs137852679
PheGenIrs137852679
hapmaprs137852679
1000 genomesrs137852679
hgdprs137852679
ensemblrs137852679
gopubmedrs137852679
geneviewrs137852679
scholarrs137852679
googlers137852679
pharmgkbrs137852679
gwascentralrs137852679
openSNPrs137852679
23andMers137852679
23andMe allrs137852679
SNP Nexus

SNPshotrs137852679
SNPdbers137852679
MSV3drs137852679
GWAS Ctlgrs137852679
Max Magnitude0
OMIM600555
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852679(T;T)
Alt rs137852679(T;T)
Reference rs137852679(G;G)
Significance Pathogenic
Disease Immunodeficiency 31a
Variation info
Gene STAT1
CLNDBN Immunodeficiency 31a
Reversed 1
HGVS NC_000002.11:g.191848425C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009613.5,