rs199472824
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199472824(C;C) |
Make rs199472824(C;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 2585227 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs199472824 |
dbSNP (classic) | rs199472824 |
ClinGen | rs199472824 |
ebi | rs199472824 |
HLI | rs199472824 |
Exac | rs199472824 |
Gnomad | rs199472824 |
Varsome | rs199472824 |
LitVar | rs199472824 |
Map | rs199472824 |
PheGenI | rs199472824 |
Biobank | rs199472824 |
1000 genomes | rs199472824 |
hgdp | rs199472824 |
ensembl | rs199472824 |
geneview | rs199472824 |
scholar | rs199472824 |
rs199472824 | |
pharmgkb | rs199472824 |
gwascentral | rs199472824 |
openSNP | rs199472824 |
23andMe | rs199472824 |
SNPshot | rs199472824 |
SNPdbe | rs199472824 |
MSV3d | rs199472824 |
GWAS Ctlg | rs199472824 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199472824(A;A) rs199472824(C;C) |
Alt | rs199472824(A;A) rs199472824(C;C) |
Reference | Rs199472824(G;G) |
Significance | Untested |
Disease | Congenital long QT syndrome Long QT syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Congenital long QT syndrome Long QT syndrome, LQT1 subtype |
Reversed | 0 |
HGVS | NC_000011.9:g.2606457G>A; NC_000011.9:g.2606457G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000057539.3, RCV000045947.2, RCV000057540.3, |