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rs281874770

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs281874770(C;C)
Make rs281874770(C;G)
ReferenceGRCh38.p2 38.2/146
Chromosome12
Position56355703
GeneSTAT2
is asnp
is mentioned by
dbSNPrs281874770
dbSNP (classic)rs281874770
ClinGenrs281874770
ebirs281874770
HLIrs281874770
Exacrs281874770
Gnomadrs281874770
Varsomers281874770
LitVarrs281874770
Maprs281874770
PheGenIrs281874770
Biobankrs281874770
1000 genomesrs281874770
hgdprs281874770
ensemblrs281874770
geneviewrs281874770
scholarrs281874770
googlers281874770
pharmgkbrs281874770
gwascentralrs281874770
openSNPrs281874770
23andMers281874770
SNPshotrs281874770
SNPdbers281874770
MSV3drs281874770
GWAS Ctlgrs281874770
Max Magnitude0
ClinVar
Risk rs281874770(C;C)
Alt rs281874770(C;C)
Reference Rs281874770(G;G)
Significance Pathogenic
Disease Immunodeficiency 44
Variation info
Gene STAT2
CLNDBN Immunodeficiency 44
Reversed 1
HGVS NC_000012.11:g.56749487C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000202375.1,