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rs387906763

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906763(C;C)
Make rs387906763(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position190999647
GeneSTAT1
is asnp
is mentioned by
dbSNPrs387906763
ebirs387906763
HLIrs387906763
Exacrs387906763
Varsomers387906763
Maprs387906763
PheGenIrs387906763
hapmaprs387906763
1000 genomesrs387906763
hgdprs387906763
ensemblrs387906763
gopubmedrs387906763
geneviewrs387906763
scholarrs387906763
googlers387906763
pharmgkbrs387906763
gwascentralrs387906763
openSNPrs387906763
23andMers387906763
23andMe allrs387906763
SNP Nexus

SNPshotrs387906763
SNPdbers387906763
MSV3drs387906763
GWAS Ctlgrs387906763
Max Magnitude0
ClinVar
Risk rs387906763(C;C)
Alt rs387906763(C;C)
Reference rs387906763(T;T)
Significance Pathogenic
Disease Immunodeficiency 31C
Variation info
Gene STAT1
CLNDBN Immunodeficiency 31C
Reversed 1
HGVS NC_000002.11:g.191864373A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022991.3,