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rs137852680

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852680(C;C)
Make rs137852680(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position190991307
GeneSTAT1
is asnp
is mentioned by
dbSNPrs137852680
ebirs137852680
HLIrs137852680
Exacrs137852680
Varsomers137852680
Maprs137852680
PheGenIrs137852680
hapmaprs137852680
1000 genomesrs137852680
hgdprs137852680
ensemblrs137852680
gopubmedrs137852680
geneviewrs137852680
scholarrs137852680
googlers137852680
pharmgkbrs137852680
gwascentralrs137852680
openSNPrs137852680
23andMers137852680
23andMe allrs137852680
SNP Nexus

SNPshotrs137852680
SNPdbers137852680
MSV3drs137852680
GWAS Ctlgrs137852680
Max Magnitude0
OMIM600555
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852680(C;C)
Alt rs137852680(C;C)
Reference rs137852680(G;G)
Significance Pathogenic
Disease Immunodeficiency 31a
Variation info
Gene STAT1
CLNDBN Immunodeficiency 31a
Reversed 1
HGVS NC_000002.11:g.191856033C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009614.5,