rs74462309
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs74462309(A;G) |
Make rs74462309(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 2583457 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs74462309 |
dbSNP (classic) | rs74462309 |
ClinGen | rs74462309 |
ebi | rs74462309 |
HLI | rs74462309 |
Exac | rs74462309 |
Gnomad | rs74462309 |
Varsome | rs74462309 |
LitVar | rs74462309 |
Map | rs74462309 |
PheGenI | rs74462309 |
Biobank | rs74462309 |
1000 genomes | rs74462309 |
hgdp | rs74462309 |
ensembl | rs74462309 |
geneview | rs74462309 |
scholar | rs74462309 |
rs74462309 | |
pharmgkb | rs74462309 |
gwascentral | rs74462309 |
openSNP | rs74462309 |
23andMe | rs74462309 |
SNPshot | rs74462309 |
SNPdbe | rs74462309 |
MSV3d | rs74462309 |
GWAS Ctlg | rs74462309 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs74462309(C;C) rs74462309(G;G) rs74462309(T;T) |
Alt | rs74462309(C;C) rs74462309(G;G) rs74462309(T;T) |
Reference | Rs74462309(A;A) |
Significance | Other |
Disease | Long QT syndrome Congenital long QT syndrome not provided |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.2604687A>C; NC_000011.9:g.2604687A>G; NC_000011.9:g.2604687A>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000046171.2, RCV000057815.3, RCV000046172.2, RCV000057816.3, RCV000182138.3, RCV000046173.2, RCV000057817.3, |