rs74315446
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs74315446(C;T) |
Make rs74315446(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 21 |
Position | 34449414 |
Gene | KCNE1 |
is a | snp |
is | mentioned by |
dbSNP | rs74315446 |
dbSNP (classic) | rs74315446 |
ClinGen | rs74315446 |
ebi | rs74315446 |
HLI | rs74315446 |
Exac | rs74315446 |
Gnomad | rs74315446 |
Varsome | rs74315446 |
LitVar | rs74315446 |
Map | rs74315446 |
PheGenI | rs74315446 |
Biobank | rs74315446 |
1000 genomes | rs74315446 |
hgdp | rs74315446 |
ensembl | rs74315446 |
geneview | rs74315446 |
scholar | rs74315446 |
rs74315446 | |
pharmgkb | rs74315446 |
gwascentral | rs74315446 |
openSNP | rs74315446 |
23andMe | rs74315446 |
SNPshot | rs74315446 |
SNPdbe | rs74315446 |
MSV3d | rs74315446 |
GWAS Ctlg | rs74315446 |
GMAF | 0.0004591 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74315446(G;G) rs74315446(T;T) |
Alt | rs74315446(G;G) rs74315446(T;T) |
Reference | Rs74315446(C;C) |
Significance | Pathogenic |
Disease | Long QT syndrome 5 Congenital long QT syndrome Long QT syndrome |
Variation | info |
Gene | KCNE1B KCNE1 |
CLNDBN | Long QT syndrome 5 Congenital long QT syndrome Long QT syndrome |
Reversed | 1 |
HGVS | NC_000021.8:g.35821712G>A; NC_000021.8:g.35821712G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014421.25, RCV000119079.2, RCV000471661.1, RCV000468164.1, |
[PMID 9354802] Mutations in the hminK gene cause long QT syndrome and suppress IKs function.
[PMID 15051636] Compound mutations: a common cause of severe long-QT syndrome.
[PMID 19907016] Mechanisms of disease pathogenesis in long QT syndrome type 5.