rs120074194
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Romano-Ward Long QT Syndrome |
(G;G) | 0 | common in clinvar |
Make rs120074194(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2572871 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs120074194 |
dbSNP (classic) | rs120074194 |
ClinGen | rs120074194 |
ebi | rs120074194 |
HLI | rs120074194 |
Exac | rs120074194 |
Gnomad | rs120074194 |
Varsome | rs120074194 |
LitVar | rs120074194 |
Map | rs120074194 |
PheGenI | rs120074194 |
Biobank | rs120074194 |
1000 genomes | rs120074194 |
hgdp | rs120074194 |
ensembl | rs120074194 |
geneview | rs120074194 |
scholar | rs120074194 |
rs120074194 | |
pharmgkb | rs120074194 |
gwascentral | rs120074194 |
openSNP | rs120074194 |
23andMe | rs120074194 |
SNPshot | rs120074194 |
SNPdbe | rs120074194 |
MSV3d | rs120074194 |
GWAS Ctlg | rs120074194 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs120074194(A;A) rs120074194(T;T) |
Alt | rs120074194(A;A) rs120074194(T;T) |
Reference | Rs120074194(G;G) |
Significance | Pathogenic |
Disease | Long QT syndrome 1 Long QT syndrome Congenital long QT syndrome not provided |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome 1 Long QT syndrome Congenital long QT syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.2594101G>A; NC_000011.9:g.2594101G>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003295.2, RCV000046133.4, RCV000057766.3, RCV000182119.3, RCV000182307.1, |
[PMID 158404] Vasoactive intestinal polypeptide (VIP): distribution in normal human brain and in Huntington's disease.
[PMID 9386136] KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.
[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
[PMID 12051962] Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome.
[PMID 14678125] Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
[PMID 15466642] Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.