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rs781522558

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs781522558(C;C)
Make rs781522558(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position56346844
GeneSTAT2
is asnp
is mentioned by
dbSNPrs781522558
dbSNP (classic)rs781522558
ClinGenrs781522558
ebirs781522558
HLIrs781522558
Exacrs781522558
Gnomadrs781522558
Varsomers781522558
LitVarrs781522558
Maprs781522558
PheGenIrs781522558
Biobankrs781522558
1000 genomesrs781522558
hgdprs781522558
ensemblrs781522558
geneviewrs781522558
scholarrs781522558
googlers781522558
pharmgkbrs781522558
gwascentralrs781522558
openSNPrs781522558
23andMers781522558
SNPshotrs781522558
SNPdbers781522558
MSV3drs781522558
GWAS Ctlgrs781522558
Max Magnitude0
ClinVar
Risk rs781522558(C;C) rs781522558(T;T)
Alt rs781522558(C;C) rs781522558(T;T)
Reference Rs781522558(G;G)
Significance Pathogenic
Disease Immunodeficiency 44
Variation info
Gene STAT2
CLNDBN Immunodeficiency 44
Reversed 0
HGVS NC_000012.11:g.56740628G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000202385.1,