rs199473457
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199473457(C;T) |
Make rs199473457(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2572020 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs199473457 |
dbSNP (classic) | rs199473457 |
ClinGen | rs199473457 |
ebi | rs199473457 |
HLI | rs199473457 |
Exac | rs199473457 |
Gnomad | rs199473457 |
Varsome | rs199473457 |
LitVar | rs199473457 |
Map | rs199473457 |
PheGenI | rs199473457 |
Biobank | rs199473457 |
1000 genomes | rs199473457 |
hgdp | rs199473457 |
ensembl | rs199473457 |
geneview | rs199473457 |
scholar | rs199473457 |
rs199473457 | |
pharmgkb | rs199473457 |
gwascentral | rs199473457 |
openSNP | rs199473457 |
23andMe | rs199473457 |
SNPshot | rs199473457 |
SNPdbe | rs199473457 |
MSV3d | rs199473457 |
GWAS Ctlg | rs199473457 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199473457(A;A) rs199473457(T;T) |
Alt | rs199473457(A;A) rs199473457(T;T) |
Reference | Rs199473457(C;C) |
Significance | Pathogenic |
Disease | not provided KCNQ1-related acquired long QT syndrome Congenital long QT syndrome Long QT syndrome 1 |
Variation | info |
Gene | KCNQ1 |
CLNDBN | not provided KCNQ1-related acquired long QT syndrome Congenital long QT syndrome Long QT syndrome 1 |
Reversed | 0 |
HGVS | NC_000011.9:g.2593250C>A; NC_000011.9:g.2593250C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000289174.2, RCV000046106.2, RCV000057733.3, RCV000182100.3, RCV000240642.1, |
[PMID 19843] Eschaemia during arterial reconstructive surgery. Biochemical changes as reflected in popliteal vein samples.
[PMID 12205790] [Congenital long QT syndrome in newborns].
[PMID 14998624] Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.
[PMID 15176425] Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.
[PMID 16922724] Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
[PMID 19716085] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.