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rs587777648

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs587777648(C;C)
Make rs587777648(C;T)
ReferenceGRCh38 38.1/142
Chromosome17
Position42329612
GeneSTAT3
is asnp
is mentioned by
dbSNPrs587777648
dbSNP (classic)rs587777648
ClinGenrs587777648
ebirs587777648
HLIrs587777648
Exacrs587777648
Gnomadrs587777648
Varsomers587777648
LitVarrs587777648
Maprs587777648
PheGenIrs587777648
Biobankrs587777648
1000 genomesrs587777648
hgdprs587777648
ensemblrs587777648
geneviewrs587777648
scholarrs587777648
googlers587777648
pharmgkbrs587777648
gwascentralrs587777648
openSNPrs587777648
23andMers587777648
SNPshotrs587777648
SNPdbers587777648
MSV3drs587777648
GWAS Ctlgrs587777648
Max Magnitude0
ClinVar
Risk rs587777648(C;C) Rs587777648(T;T)
Alt rs587777648(C;C) Rs587777648(T;T)
Reference Rs587777648(A;A)
Significance Pathogenic
Disease Autoimmune disease
Variation info
Gene STAT3
CLNDBN Autoimmune disease, multisystem, infantile-onset, 1
Reversed 1
HGVS NC_000017.10:g.40481630T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000133537.4,