rs120074195
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs120074195(C;C) |
Make rs120074195(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2572984 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs120074195 |
dbSNP (classic) | rs120074195 |
ClinGen | rs120074195 |
ebi | rs120074195 |
HLI | rs120074195 |
Exac | rs120074195 |
Gnomad | rs120074195 |
Varsome | rs120074195 |
LitVar | rs120074195 |
Map | rs120074195 |
PheGenI | rs120074195 |
Biobank | rs120074195 |
1000 genomes | rs120074195 |
hgdp | rs120074195 |
ensembl | rs120074195 |
geneview | rs120074195 |
scholar | rs120074195 |
rs120074195 | |
pharmgkb | rs120074195 |
gwascentral | rs120074195 |
openSNP | rs120074195 |
23andMe | rs120074195 |
SNPshot | rs120074195 |
SNPdbe | rs120074195 |
MSV3d | rs120074195 |
GWAS Ctlg | rs120074195 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs120074195(C;C) |
Alt | rs120074195(C;C) |
Reference | Rs120074195(G;G) |
Significance | Pathogenic |
Disease | Short QT syndrome 2 Short QT syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Short QT syndrome 2 short QT syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.2594214G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003298.5, RCV000057800.3, |
[PMID 15051636] Compound mutations: a common cause of severe long-QT syndrome.
[PMID 15159330] Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.
[PMID 20436212] Action potential clamp and mefloquine sensitivity of recombinant 'I KS' channels incorporating the V307L KCNQ1 mutation.