rs730880116
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
(G;T) | 5 | Romano-Ward Long QT Syndrome |
Make rs730880116(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 150958290 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs730880116 |
dbSNP (classic) | rs730880116 |
ClinGen | rs730880116 |
ebi | rs730880116 |
HLI | rs730880116 |
Exac | rs730880116 |
Gnomad | rs730880116 |
Varsome | rs730880116 |
LitVar | rs730880116 |
Map | rs730880116 |
PheGenI | rs730880116 |
Biobank | rs730880116 |
1000 genomes | rs730880116 |
hgdp | rs730880116 |
ensembl | rs730880116 |
geneview | rs730880116 |
scholar | rs730880116 |
rs730880116 | |
pharmgkb | rs730880116 |
gwascentral | rs730880116 |
openSNP | rs730880116 |
23andMe | rs730880116 |
SNPshot | rs730880116 |
SNPdbe | rs730880116 |
MSV3d | rs730880116 |
GWAS Ctlg | rs730880116 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs730880116(T;T) |
Alt | rs730880116(T;T) |
Reference | Rs730880116(G;G) |
Significance | Pathogenic |
Disease | Long QT syndrome 2 not provided |
Variation | info |
Gene | KCNH2 |
CLNDBN | Long QT syndrome 2 not provided |
Reversed | 1 |
HGVS | NC_000007.13:g.150655378C>A |
CLNSRC | |
CLNACC | RCV000157258.1, RCV000412861.1, |