rs199473441
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs199473441(A;G) |
Make rs199473441(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 11 |
Position | 2445099 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs199473441 |
dbSNP (classic) | rs199473441 |
ClinGen | rs199473441 |
ebi | rs199473441 |
HLI | rs199473441 |
Exac | rs199473441 |
Gnomad | rs199473441 |
Varsome | rs199473441 |
LitVar | rs199473441 |
Map | rs199473441 |
PheGenI | rs199473441 |
Biobank | rs199473441 |
1000 genomes | rs199473441 |
hgdp | rs199473441 |
ensembl | rs199473441 |
geneview | rs199473441 |
scholar | rs199473441 |
rs199473441 | |
pharmgkb | rs199473441 |
gwascentral | rs199473441 |
openSNP | rs199473441 |
23andMe | rs199473441 |
SNPshot | rs199473441 |
SNPdbe | rs199473441 |
MSV3d | rs199473441 |
GWAS Ctlg | rs199473441 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199473441(G;G) rs199473441(T;T) |
Alt | rs199473441(G;G) rs199473441(T;T) |
Reference | Rs199473441(A;A) |
Significance | Pathogenic |
Disease | Congenital long QT syndrome Long QT syndrome |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Congenital long QT syndrome Long QT syndrome |
Reversed | 0 |
HGVS | NC_000011.9:g.2466329A>G; NC_000011.9:g.2466329A>T |
CLNSRC | ClinVar |
CLNACC | RCV000057654.3, RCV000206337.2, |