rs199472698
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs199472698(A;A) |
Make rs199472698(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 2570725 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs199472698 |
dbSNP (classic) | rs199472698 |
ClinGen | rs199472698 |
ebi | rs199472698 |
HLI | rs199472698 |
Exac | rs199472698 |
Gnomad | rs199472698 |
Varsome | rs199472698 |
LitVar | rs199472698 |
Map | rs199472698 |
PheGenI | rs199472698 |
Biobank | rs199472698 |
1000 genomes | rs199472698 |
hgdp | rs199472698 |
ensembl | rs199472698 |
geneview | rs199472698 |
scholar | rs199472698 |
rs199472698 | |
pharmgkb | rs199472698 |
gwascentral | rs199472698 |
openSNP | rs199472698 |
23andMe | rs199472698 |
SNPshot | rs199472698 |
SNPdbe | rs199472698 |
MSV3d | rs199472698 |
GWAS Ctlg | rs199472698 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199472698(A;A) rs199472698(C;C) |
Alt | rs199472698(A;A) rs199472698(C;C) |
Reference | Rs199472698(G;G) |
Significance | Pathogenic |
Disease | Congenital long QT syndrome not provided Long QT syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Congenital long QT syndrome not provided Long QT syndrome, LQT1 subtype |
Reversed | 0 |
HGVS | NC_000011.9:g.2591955G>A; NC_000011.9:g.2591955G>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000057709.3, RCV000182300.1, RCV000046092.2, RCV000057710.3, |