rs587777648
From SNPedia
Orientation | plus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs587777648(C;C) |
Make rs587777648(C;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 17 |
Position | 42329612 |
Gene | STAT3 |
is a | snp |
is | mentioned by |
dbSNP | rs587777648 |
dbSNP (classic) | rs587777648 |
ClinGen | rs587777648 |
ebi | rs587777648 |
HLI | rs587777648 |
Exac | rs587777648 |
Gnomad | rs587777648 |
Varsome | rs587777648 |
LitVar | rs587777648 |
Map | rs587777648 |
PheGenI | rs587777648 |
Biobank | rs587777648 |
1000 genomes | rs587777648 |
hgdp | rs587777648 |
ensembl | rs587777648 |
geneview | rs587777648 |
scholar | rs587777648 |
rs587777648 | |
pharmgkb | rs587777648 |
gwascentral | rs587777648 |
openSNP | rs587777648 |
23andMe | rs587777648 |
SNPshot | rs587777648 |
SNPdbe | rs587777648 |
MSV3d | rs587777648 |
GWAS Ctlg | rs587777648 |
Max Magnitude | 0 |
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, |