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rs387906760

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906760(A;A)
Make rs387906760(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position190995184
GeneSTAT1
is asnp
is mentioned by
dbSNPrs387906760
ebirs387906760
HLIrs387906760
Exacrs387906760
Varsomers387906760
Maprs387906760
PheGenIrs387906760
hapmaprs387906760
1000 genomesrs387906760
hgdprs387906760
ensemblrs387906760
gopubmedrs387906760
geneviewrs387906760
scholarrs387906760
googlers387906760
pharmgkbrs387906760
gwascentralrs387906760
openSNPrs387906760
23andMers387906760
23andMe allrs387906760
SNP Nexus

SNPshotrs387906760
SNPdbers387906760
MSV3drs387906760
GWAS Ctlgrs387906760
Max Magnitude0
ClinVar
Risk rs387906760(A;A)
Alt rs387906760(A;A)
Reference rs387906760(G;G)
Significance Pathogenic
Disease Immunodeficiency 31C
Variation info
Gene STAT1
CLNDBN Immunodeficiency 31C
Reversed 1
HGVS NC_000002.11:g.191859910C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000022988.6,