rs120074185
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs120074185(C;T) |
Make rs120074185(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2776032 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs120074185 |
dbSNP (classic) | rs120074185 |
ClinGen | rs120074185 |
ebi | rs120074185 |
HLI | rs120074185 |
Exac | rs120074185 |
Gnomad | rs120074185 |
Varsome | rs120074185 |
LitVar | rs120074185 |
Map | rs120074185 |
PheGenI | rs120074185 |
Biobank | rs120074185 |
1000 genomes | rs120074185 |
hgdp | rs120074185 |
ensembl | rs120074185 |
geneview | rs120074185 |
scholar | rs120074185 |
rs120074185 | |
pharmgkb | rs120074185 |
gwascentral | rs120074185 |
openSNP | rs120074185 |
23andMe | rs120074185 |
SNPshot | rs120074185 |
SNPdbe | rs120074185 |
MSV3d | rs120074185 |
GWAS Ctlg | rs120074185 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs120074185(A;A) rs120074185(T;T) |
Alt | rs120074185(A;A) rs120074185(T;T) |
Reference | Rs120074185(C;C) |
Significance | Pathogenic |
Disease | Congenital long QT syndrome not provided Long QT syndrome 1 Long QT syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Congenital long QT syndrome not provided Long QT syndrome 1 Long QT syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.2797262C>A; NC_000011.9:g.2797262C>T |
CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
CLNACC | RCV000057612.3, RCV000479287.1, RCV000003274.2, RCV000046011.4, RCV000057613.3, RCV000182211.4, |
[PMID 9386136] KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
[PMID 12877697] Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome.
[PMID 14760488] Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.
[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
[PMID 18174212] Kv7.1 (KCNQ1) properties and channelopathies.
[PMID 19716085] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.