rs104894584
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs104894584(A;A) |
Make rs104894584(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 17 |
Position | 70175553 |
Gene | KCNJ2 |
is a | snp |
is | mentioned by |
dbSNP | rs104894584 |
dbSNP (classic) | rs104894584 |
ClinGen | rs104894584 |
ebi | rs104894584 |
HLI | rs104894584 |
Exac | rs104894584 |
Gnomad | rs104894584 |
Varsome | rs104894584 |
LitVar | rs104894584 |
Map | rs104894584 |
PheGenI | rs104894584 |
Biobank | rs104894584 |
1000 genomes | rs104894584 |
hgdp | rs104894584 |
ensembl | rs104894584 |
geneview | rs104894584 |
scholar | rs104894584 |
rs104894584 | |
pharmgkb | rs104894584 |
gwascentral | rs104894584 |
openSNP | rs104894584 |
23andMe | rs104894584 |
SNPshot | rs104894584 |
SNPdbe | rs104894584 |
MSV3d | rs104894584 |
GWAS Ctlg | rs104894584 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs104894584(A;A) |
Alt | rs104894584(A;A) |
Reference | Rs104894584(G;G) |
Significance | Pathogenic |
Disease | Short QT syndrome 3 Short QT syndrome |
Variation | info |
Gene | KCNJ2 |
CLNDBN | Short QT syndrome 3 short QT syndrome |
Reversed | 0 |
HGVS | NC_000017.10:g.68171694G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000009482.2, RCV000058318.3, |
[PMID 15761194] A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene.