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rs387906768

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906768(A;C)
Make rs387906768(C;C)
ReferenceGRCh38 38.1/141
Chromosome2
Position190995193
GeneSTAT1
is asnp
is mentioned by
dbSNPrs387906768
ebirs387906768
HLIrs387906768
Exacrs387906768
Varsomers387906768
Maprs387906768
PheGenIrs387906768
hapmaprs387906768
1000 genomesrs387906768
hgdprs387906768
ensemblrs387906768
gopubmedrs387906768
geneviewrs387906768
scholarrs387906768
googlers387906768
pharmgkbrs387906768
gwascentralrs387906768
openSNPrs387906768
23andMers387906768
23andMe allrs387906768
SNP Nexus

SNPshotrs387906768
SNPdbers387906768
MSV3drs387906768
GWAS Ctlgrs387906768
Max Magnitude0
ClinVar
Risk rs387906768(C;C)
Alt rs387906768(C;C)
Reference rs387906768(A;A)
Significance Pathogenic
Disease Immunodeficiency 31C
Variation info
Gene STAT1
CLNDBN Immunodeficiency 31C
Reversed 1
HGVS NC_000002.11:g.191859919T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022997.3,