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rs587777650

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777650(C;G)
ReferenceGRCh38 38.1/142
Chromosome17
Position42322409
GeneSTAT3
is asnp
is mentioned by
dbSNPrs587777650
dbSNP (classic)rs587777650
ClinGenrs587777650
ebirs587777650
HLIrs587777650
Exacrs587777650
Gnomadrs587777650
Varsomers587777650
LitVarrs587777650
Maprs587777650
PheGenIrs587777650
Biobankrs587777650
1000 genomesrs587777650
hgdprs587777650
ensemblrs587777650
geneviewrs587777650
scholarrs587777650
googlers587777650
pharmgkbrs587777650
gwascentralrs587777650
openSNPrs587777650
23andMers587777650
SNPshotrs587777650
SNPdbers587777650
MSV3drs587777650
GWAS Ctlgrs587777650
Max Magnitude0
ClinVar
Risk Rs587777650(C;C)
Alt Rs587777650(C;C)
Reference Rs587777650(G;G)
Significance Pathogenic
Disease Autoimmune disease
Variation info
Gene STAT3
CLNDBN Autoimmune disease, multisystem, infantile-onset, 1
Reversed 1
HGVS NC_000017.10:g.40474427C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000133539.4,