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rs869312893

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs869312893(G;G)
Make rs869312893(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome17
Position42329431
GeneSTAT3
is asnp
is mentioned by
dbSNPrs869312893
dbSNP (classic)rs869312893
ClinGenrs869312893
ebirs869312893
HLIrs869312893
Exacrs869312893
Gnomadrs869312893
Varsomers869312893
LitVarrs869312893
Maprs869312893
PheGenIrs869312893
Biobankrs869312893
1000 genomesrs869312893
hgdprs869312893
ensemblrs869312893
geneviewrs869312893
scholarrs869312893
googlers869312893
pharmgkbrs869312893
gwascentralrs869312893
openSNPrs869312893
23andMers869312893
SNPshotrs869312893
SNPdbers869312893
MSV3drs869312893
GWAS Ctlgrs869312893
Max Magnitude0
ClinVar
Risk rs869312893(G;G)
Alt rs869312893(G;G)
Reference Rs869312893(T;T)
Significance Pathogenic
Disease Autoimmune disease
Variation info
Gene STAT3
CLNDBN Autoimmune disease, multisystem, infantile-onset, 1
Reversed 1
HGVS NC_000017.10:g.40481449A>C
CLNSRC
CLNACC RCV000210425.1,