rs869025448
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs869025448(-;C) |
Make rs869025448(C;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 7 |
Position | 150952579 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs869025448 |
dbSNP (classic) | rs869025448 |
ClinGen | rs869025448 |
ebi | rs869025448 |
HLI | rs869025448 |
Exac | rs869025448 |
Gnomad | rs869025448 |
Varsome | rs869025448 |
LitVar | rs869025448 |
Map | rs869025448 |
PheGenI | rs869025448 |
Biobank | rs869025448 |
1000 genomes | rs869025448 |
hgdp | rs869025448 |
ensembl | rs869025448 |
geneview | rs869025448 |
scholar | rs869025448 |
rs869025448 | |
pharmgkb | rs869025448 |
gwascentral | rs869025448 |
openSNP | rs869025448 |
23andMe | rs869025448 |
SNPshot | rs869025448 |
SNPdbe | rs869025448 |
MSV3d | rs869025448 |
GWAS Ctlg | rs869025448 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869025448(C;C) |
Alt | rs869025448(C;C) |
Reference | Rs869025448(-;-) |
Significance | Probable-Pathogenic |
Disease | Long QT syndrome 2 |
Variation | info |
Gene | KCNH2 |
CLNDBN | Long QT syndrome 2 |
Reversed | 1 |
HGVS | NC_000007.13:g.150649668dupG |
CLNSRC | |
CLNACC | RCV000208164.1, |