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rs137852677

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852677(C;C)
Make rs137852677(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position190975830
GeneSTAT1
is asnp
is mentioned by
dbSNPrs137852677
ebirs137852677
HLIrs137852677
Exacrs137852677
Varsomers137852677
Maprs137852677
PheGenIrs137852677
hapmaprs137852677
1000 genomesrs137852677
hgdprs137852677
ensemblrs137852677
gopubmedrs137852677
geneviewrs137852677
scholarrs137852677
googlers137852677
pharmgkbrs137852677
gwascentralrs137852677
openSNPrs137852677
23andMers137852677
23andMe allrs137852677
SNP Nexus

SNPshotrs137852677
SNPdbers137852677
MSV3drs137852677
GWAS Ctlgrs137852677
Max Magnitude0
OMIM600555
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852677(C;C)
Alt rs137852677(C;C)
Reference rs137852677(T;T)
Significance Pathogenic
Disease Immunodeficiency 31a
Variation info
Gene STAT1
CLNDBN Immunodeficiency 31a
Reversed 1
HGVS NC_000002.11:g.191840556A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009610.5,