rs199472709
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Romano-Ward Long QT Syndrome |
(G;G) | 0 | common in clinvar |
(G;T) | 5 | Romano-Ward Long QT Syndrome |
Make rs199472709(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 2572021 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs199472709 |
dbSNP (classic) | rs199472709 |
ClinGen | rs199472709 |
ebi | rs199472709 |
HLI | rs199472709 |
Exac | rs199472709 |
Gnomad | rs199472709 |
Varsome | rs199472709 |
LitVar | rs199472709 |
Map | rs199472709 |
PheGenI | rs199472709 |
Biobank | rs199472709 |
1000 genomes | rs199472709 |
hgdp | rs199472709 |
ensembl | rs199472709 |
geneview | rs199472709 |
scholar | rs199472709 |
rs199472709 | |
pharmgkb | rs199472709 |
gwascentral | rs199472709 |
openSNP | rs199472709 |
23andMe | rs199472709 |
SNPshot | rs199472709 |
SNPdbe | rs199472709 |
MSV3d | rs199472709 |
GWAS Ctlg | rs199472709 |
Max Magnitude | 5 |
aka c.311G>A (p.Arg104His); also known as R231H and Arg231His
This mutation is considered to be a dominantly inherited mutation leading to either Long QT syndrome or very early-onset atrial fibrillation; see OMIM 607542.0043 and also [PMID 31638414]
ClinVar | |
---|---|
Risk | rs199472709(A;A) |
Alt | rs199472709(A;A) |
Reference | Rs199472709(G;G) |
Significance | Pathogenic |
Disease | Long QT syndrome Congenital long QT syndrome Atrial fibrillation Long QT syndrome 1 not provided |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome Congenital long QT syndrome Atrial fibrillation, familial, 3 Long QT syndrome 1 not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.2593251G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000046107.5, RCV000057734.3, RCV000115007.3, RCV000115008.3, RCV000182101.2, |