rs730880374
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs730880374(-;G) |
Make rs730880374(G;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 7 |
Position | 150958132 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs730880374 |
dbSNP (classic) | rs730880374 |
ClinGen | rs730880374 |
ebi | rs730880374 |
HLI | rs730880374 |
Exac | rs730880374 |
Gnomad | rs730880374 |
Varsome | rs730880374 |
LitVar | rs730880374 |
Map | rs730880374 |
PheGenI | rs730880374 |
Biobank | rs730880374 |
1000 genomes | rs730880374 |
hgdp | rs730880374 |
ensembl | rs730880374 |
geneview | rs730880374 |
scholar | rs730880374 |
rs730880374 | |
pharmgkb | rs730880374 |
gwascentral | rs730880374 |
openSNP | rs730880374 |
23andMe | rs730880374 |
SNPshot | rs730880374 |
SNPdbe | rs730880374 |
MSV3d | rs730880374 |
GWAS Ctlg | rs730880374 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880374(G;G) |
Alt | rs730880374(G;G) |
Reference | Rs730880374(-;-) |
Significance | Probable-Pathogenic |
Disease | Long QT syndrome 2 |
Variation | info |
Gene | KCNH2 |
CLNDBN | Long QT syndrome 2 |
Reversed | 1 |
HGVS | NC_000007.13:g.150655221dupC |
CLNSRC | |
CLNACC | RCV000157260.1, |