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rs387906766

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs387906766(A;A)
Make rs387906766(A;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position190999659
GeneSTAT1
is asnp
is mentioned by
dbSNPrs387906766
dbSNP (classic)rs387906766
ClinGenrs387906766
ebirs387906766
HLIrs387906766
Exacrs387906766
Gnomadrs387906766
Varsomers387906766
LitVarrs387906766
Maprs387906766
PheGenIrs387906766
Biobankrs387906766
1000 genomesrs387906766
hgdprs387906766
ensemblrs387906766
geneviewrs387906766
scholarrs387906766
googlers387906766
pharmgkbrs387906766
gwascentralrs387906766
openSNPrs387906766
23andMers387906766
SNPshotrs387906766
SNPdbers387906766
MSV3drs387906766
GWAS Ctlgrs387906766
Max Magnitude0
ClinVar
Risk rs387906766(A;A)
Alt rs387906766(A;A)
Reference Rs387906766(T;T)
Significance Pathogenic
Disease Immunodeficiency 31C
Variation info
Gene STAT1
CLNDBN Immunodeficiency 31C
Reversed 1
HGVS NC_000002.11:g.191864385A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000022994.4,