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rs387906758

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906758(C;T)
Make rs387906758(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position190995185
GeneSTAT1
is asnp
is mentioned by
dbSNPrs387906758
ebirs387906758
HLIrs387906758
Exacrs387906758
Varsomers387906758
Maprs387906758
PheGenIrs387906758
hapmaprs387906758
1000 genomesrs387906758
hgdprs387906758
ensemblrs387906758
gopubmedrs387906758
geneviewrs387906758
scholarrs387906758
googlers387906758
pharmgkbrs387906758
gwascentralrs387906758
openSNPrs387906758
23andMers387906758
23andMe allrs387906758
SNP Nexus

SNPshotrs387906758
SNPdbers387906758
MSV3drs387906758
GWAS Ctlgrs387906758
Max Magnitude0
ClinVar
Risk rs387906758(G,T;G,T)
Alt rs387906758(G,T;G,T)
Reference rs387906758(C;C)
Significance Pathogenic
Disease Immunodeficiency 31C
Variation info
Gene STAT1
CLNDBN Immunodeficiency 31C
Reversed 1
HGVS NC_000002.11:g.191859911G>A; NC_000002.11:g.191859911G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022986.3, RCV000148020.3,