rs199472713
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199472713(C;T) |
Make rs199472713(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2572056 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs199472713 |
dbSNP (classic) | rs199472713 |
ClinGen | rs199472713 |
ebi | rs199472713 |
HLI | rs199472713 |
Exac | rs199472713 |
Gnomad | rs199472713 |
Varsome | rs199472713 |
LitVar | rs199472713 |
Map | rs199472713 |
PheGenI | rs199472713 |
Biobank | rs199472713 |
1000 genomes | rs199472713 |
hgdp | rs199472713 |
ensembl | rs199472713 |
geneview | rs199472713 |
scholar | rs199472713 |
rs199472713 | |
pharmgkb | rs199472713 |
gwascentral | rs199472713 |
openSNP | rs199472713 |
23andMe | rs199472713 |
SNPshot | rs199472713 |
SNPdbe | rs199472713 |
MSV3d | rs199472713 |
GWAS Ctlg | rs199472713 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199472713(A;A) rs199472713(T;T) |
Alt | rs199472713(A;A) rs199472713(T;T) |
Reference | Rs199472713(C;C) |
Significance | Pathogenic |
Disease | Congenital long QT syndrome Long QT syndrome not provided |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Congenital long QT syndrome Long QT syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.2593286C>A; NC_000011.9:g.2593286C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000057740.3, RCV000046111.3, RCV000057741.3, RCV000255620.1, |
[PMID 15466] Analysis of employment turnover and job satisfaction of physician's assistants graduated from the Physician's Assistant Program of the University of Alabama in Birmingham, 1972-1975.
[PMID 10409658] Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits.
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[PMID 12877697] Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome.
[PMID 14678125] Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
[PMID 15028050] Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome.
[PMID 19490272] Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome.