rs397514766
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs397514766(C;T) |
Make rs397514766(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 42329621 |
Gene | STAT3 |
is a | snp |
is | mentioned by |
dbSNP | rs397514766 |
dbSNP (classic) | rs397514766 |
ClinGen | rs397514766 |
ebi | rs397514766 |
HLI | rs397514766 |
Exac | rs397514766 |
Gnomad | rs397514766 |
Varsome | rs397514766 |
LitVar | rs397514766 |
Map | rs397514766 |
PheGenI | rs397514766 |
Biobank | rs397514766 |
1000 genomes | rs397514766 |
hgdp | rs397514766 |
ensembl | rs397514766 |
geneview | rs397514766 |
scholar | rs397514766 |
rs397514766 | |
pharmgkb | rs397514766 |
gwascentral | rs397514766 |
openSNP | rs397514766 |
23andMe | rs397514766 |
SNPshot | rs397514766 |
SNPdbe | rs397514766 |
MSV3d | rs397514766 |
GWAS Ctlg | rs397514766 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs397514766(T;T) |
Alt | rs397514766(T;T) |
Reference | Rs397514766(C;C) |
Significance | Pathogenic |
Disease | Hyperimmunoglobulin E syndrome |
Variation | info |
Gene | STAT3 |
CLNDBN | Hyperimmunoglobulin E syndrome |
Reversed | 1 |
HGVS | NC_000017.10:g.40481639G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000054835.28, |