rs104894252
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Romano-Ward Long QT Syndrome |
(G;G) | 0 | common in clinvar |
Make rs104894252(A;A) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2570715 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs104894252 |
dbSNP (classic) | rs104894252 |
ClinGen | rs104894252 |
ebi | rs104894252 |
HLI | rs104894252 |
Exac | rs104894252 |
Gnomad | rs104894252 |
Varsome | rs104894252 |
LitVar | rs104894252 |
Map | rs104894252 |
PheGenI | rs104894252 |
Biobank | rs104894252 |
1000 genomes | rs104894252 |
hgdp | rs104894252 |
ensembl | rs104894252 |
geneview | rs104894252 |
scholar | rs104894252 |
rs104894252 | |
pharmgkb | rs104894252 |
gwascentral | rs104894252 |
openSNP | rs104894252 |
23andMe | rs104894252 |
SNPshot | rs104894252 |
SNPdbe | rs104894252 |
MSV3d | rs104894252 |
GWAS Ctlg | rs104894252 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs104894252(A;A) rs104894252(C;C) |
Alt | rs104894252(A;A) rs104894252(C;C) |
Reference | Rs104894252(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, LQT1 subtype Congenital long QT syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.2591945G>A; NC_000011.9:g.2591945G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003261.2, RCV000046083.2, RCV000057702.3, RCV000223880.2, RCV000057703.3, |
[PMID 8528244] Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.
[PMID 10220144] Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
[PMID 10376919] Functional effects of mutations in KvLQT1 that cause long QT syndrome.
[PMID 8528244] Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.