rs113994139
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs113994139(A;A) |
Make rs113994139(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 42322474 |
Gene | STAT3 |
is a | snp |
is | mentioned by |
dbSNP | rs113994139 |
dbSNP (classic) | rs113994139 |
ClinGen | rs113994139 |
ebi | rs113994139 |
HLI | rs113994139 |
Exac | rs113994139 |
Gnomad | rs113994139 |
Varsome | rs113994139 |
LitVar | rs113994139 |
Map | rs113994139 |
PheGenI | rs113994139 |
Biobank | rs113994139 |
1000 genomes | rs113994139 |
hgdp | rs113994139 |
ensembl | rs113994139 |
geneview | rs113994139 |
scholar | rs113994139 |
rs113994139 | |
pharmgkb | rs113994139 |
gwascentral | rs113994139 |
openSNP | rs113994139 |
23andMe | rs113994139 |
SNPshot | rs113994139 |
SNPdbe | rs113994139 |
MSV3d | rs113994139 |
GWAS Ctlg | rs113994139 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113994139(A;A) |
Alt | rs113994139(A;A) |
Reference | Rs113994139(G;G) |
Significance | Pathogenic |
Disease | Hyperimmunoglobulin E syndrome not provided |
Variation | info |
Gene | STAT3 |
CLNDBN | Hyperimmunoglobulin E syndrome not provided |
Reversed | 1 |
HGVS | NC_000017.10:g.40474492C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000019970.27, RCV000317206.2, |