rs199473039
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs199473039(C;T) |
Make rs199473039(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 150951512 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs199473039 |
dbSNP (classic) | rs199473039 |
ClinGen | rs199473039 |
ebi | rs199473039 |
HLI | rs199473039 |
Exac | rs199473039 |
Gnomad | rs199473039 |
Varsome | rs199473039 |
LitVar | rs199473039 |
Map | rs199473039 |
PheGenI | rs199473039 |
Biobank | rs199473039 |
1000 genomes | rs199473039 |
hgdp | rs199473039 |
ensembl | rs199473039 |
geneview | rs199473039 |
scholar | rs199473039 |
rs199473039 | |
pharmgkb | rs199473039 |
gwascentral | rs199473039 |
openSNP | rs199473039 |
23andMe | rs199473039 |
SNPshot | rs199473039 |
SNPdbe | rs199473039 |
MSV3d | rs199473039 |
GWAS Ctlg | rs199473039 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs199473039(A;A) rs199473039(G;G) rs199473039(T;T) |
Alt | rs199473039(A;A) rs199473039(G;G) rs199473039(T;T) |
Reference | Rs199473039(C;C) |
Significance | Pathogenic |
Disease | Long QT syndrome Congenital long QT syndrome not provided |
Variation | info |
Gene | KCNH2 |
CLNDBN | Long QT syndrome Congenital long QT syndrome not provided |
Reversed | 1 |
HGVS | NC_000007.13:g.150648600G>A; NC_000007.13:g.150648600G>C; NC_000007.13:g.150648600G>T |
CLNSRC | ClinVar |
CLNACC | RCV000470569.1, RCV000058028.3, RCV000182034.1, |