rs199473488
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs199473488(A;A) |
Make rs199473488(A;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 150974893 |
Gene | KCNH2, LOC107986861 |
is a | snp |
is | mentioned by |
dbSNP | rs199473488 |
dbSNP (classic) | rs199473488 |
ClinGen | rs199473488 |
ebi | rs199473488 |
HLI | rs199473488 |
Exac | rs199473488 |
Gnomad | rs199473488 |
Varsome | rs199473488 |
LitVar | rs199473488 |
Map | rs199473488 |
PheGenI | rs199473488 |
Biobank | rs199473488 |
1000 genomes | rs199473488 |
hgdp | rs199473488 |
ensembl | rs199473488 |
geneview | rs199473488 |
scholar | rs199473488 |
rs199473488 | |
pharmgkb | rs199473488 |
gwascentral | rs199473488 |
openSNP | rs199473488 |
23andMe | rs199473488 |
SNPshot | rs199473488 |
SNPdbe | rs199473488 |
MSV3d | rs199473488 |
GWAS Ctlg | rs199473488 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199473488(A;A) rs199473488(C;C) |
Alt | rs199473488(A;A) rs199473488(C;C) |
Reference | Rs199473488(T;T) |
Significance | Pathogenic |
Disease | not provided Congenital long QT syndrome |
Variation | info |
Gene | KCNH2 |
CLNDBN | not provided Congenital long QT syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.150671981A>G; NC_000007.13:g.150671981A>T |
CLNSRC | ClinVar |
CLNACC | RCV000181925.1, RCV000057879.3, |