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rs387906759

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs387906759(C;T)
Make rs387906759(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position190995205
GeneSTAT1
is asnp
is mentioned by
dbSNPrs387906759
ebirs387906759
HLIrs387906759
Exacrs387906759
Varsomers387906759
Maprs387906759
PheGenIrs387906759
hapmaprs387906759
1000 genomesrs387906759
hgdprs387906759
ensemblrs387906759
gopubmedrs387906759
geneviewrs387906759
scholarrs387906759
googlers387906759
pharmgkbrs387906759
gwascentralrs387906759
openSNPrs387906759
23andMers387906759
23andMe allrs387906759
SNP Nexus

SNPshotrs387906759
SNPdbers387906759
MSV3drs387906759
GWAS Ctlgrs387906759
Max Magnitude0
ClinVar
Risk rs387906759(T;T)
Alt rs387906759(T;T)
Reference rs387906759(C;C)
Significance Pathogenic
Disease Immunodeficiency 31C
Variation info
Gene STAT1
CLNDBN Immunodeficiency 31C
Reversed 1
HGVS NC_000002.11:g.191859931G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022987.4,