rs199473000
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;G) | 5 | Romano-Ward Long QT Syndrome |
(G;G) | 0 | common in clinvar |
Make rs199473000(A;A) |
Reference | GRCh38 38.1/142 |
Chromosome | 7 |
Position | 150949031 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs199473000 |
dbSNP (classic) | rs199473000 |
ClinGen | rs199473000 |
ebi | rs199473000 |
HLI | rs199473000 |
Exac | rs199473000 |
Gnomad | rs199473000 |
Varsome | rs199473000 |
LitVar | rs199473000 |
Map | rs199473000 |
PheGenI | rs199473000 |
Biobank | rs199473000 |
1000 genomes | rs199473000 |
hgdp | rs199473000 |
ensembl | rs199473000 |
geneview | rs199473000 |
scholar | rs199473000 |
rs199473000 | |
pharmgkb | rs199473000 |
gwascentral | rs199473000 |
openSNP | rs199473000 |
23andMe | rs199473000 |
SNPshot | rs199473000 |
SNPdbe | rs199473000 |
MSV3d | rs199473000 |
GWAS Ctlg | rs199473000 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs199473000(A;A) rs199473000(C;C) |
Alt | rs199473000(A;A) rs199473000(C;C) |
Reference | Rs199473000(G;G) |
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.150646119C>G; NC_000007.13:g.150646119C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000181864.2, RCV000058120.2, RCV000181863.2, |