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rs387906761

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906761(A;T)
Make rs387906761(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position190995148
GeneSTAT1
is asnp
is mentioned by
dbSNPrs387906761
ebirs387906761
HLIrs387906761
Exacrs387906761
Varsomers387906761
Maprs387906761
PheGenIrs387906761
hapmaprs387906761
1000 genomesrs387906761
hgdprs387906761
ensemblrs387906761
gopubmedrs387906761
geneviewrs387906761
scholarrs387906761
googlers387906761
pharmgkbrs387906761
gwascentralrs387906761
openSNPrs387906761
23andMers387906761
23andMe allrs387906761
SNP Nexus

SNPshotrs387906761
SNPdbers387906761
MSV3drs387906761
GWAS Ctlgrs387906761
Max Magnitude0
ClinVar
Risk rs387906761(T;T)
Alt rs387906761(T;T)
Reference rs387906761(A;A)
Significance Pathogenic
Disease Immunodeficiency 31C
Variation info
Gene STAT1
CLNDBN Immunodeficiency 31C
Reversed 1
HGVS NC_000002.11:g.191859874T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022989.5,