rs151344631
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Romano-Ward Long QT Syndrome |
(G;G) | 0 | common in clinvar |
Make rs151344631(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2571333 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs151344631 |
dbSNP (classic) | rs151344631 |
ClinGen | rs151344631 |
ebi | rs151344631 |
HLI | rs151344631 |
Exac | rs151344631 |
Gnomad | rs151344631 |
Varsome | rs151344631 |
LitVar | rs151344631 |
Map | rs151344631 |
PheGenI | rs151344631 |
Biobank | rs151344631 |
1000 genomes | rs151344631 |
hgdp | rs151344631 |
ensembl | rs151344631 |
geneview | rs151344631 |
scholar | rs151344631 |
rs151344631 | |
pharmgkb | rs151344631 |
gwascentral | rs151344631 |
openSNP | rs151344631 |
23andMe | rs151344631 |
SNPshot | rs151344631 |
SNPdbe | rs151344631 |
MSV3d | rs151344631 |
GWAS Ctlg | rs151344631 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs151344631(A;A) |
Alt | rs151344631(A;A) |
Reference | Rs151344631(G;G) |
Significance | Pathogenic |
Disease | Long QT syndrome 1 Long QT syndrome not provided Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome 1 Long QT syndrome, LQT1 subtype not provided Congenital long QT syndrome Long QT syndrome Cardiovascular phenotype |
Reversed | 0 |
HGVS | NC_000011.9:g.2592563G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000030815.2, RCV000046099.2, RCV000057723.6, RCV000119056.2, RCV000148547.1, RCV000252730.1, |
[PMID 18580685] A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact.
[PMID 20421371] Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs.