rs794728425
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs794728425(-;CGGCCAGCTCCCATCGCCCC) |
Make rs794728425(CGGCCAGCTCCCATCGCCCC;CGGCCAGCTCCCATCGCCCC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 150958220 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs794728425 |
dbSNP (classic) | rs794728425 |
ClinGen | rs794728425 |
ebi | rs794728425 |
HLI | rs794728425 |
Exac | rs794728425 |
Gnomad | rs794728425 |
Varsome | rs794728425 |
LitVar | rs794728425 |
Map | rs794728425 |
PheGenI | rs794728425 |
Biobank | rs794728425 |
1000 genomes | rs794728425 |
hgdp | rs794728425 |
ensembl | rs794728425 |
geneview | rs794728425 |
scholar | rs794728425 |
rs794728425 | |
pharmgkb | rs794728425 |
gwascentral | rs794728425 |
openSNP | rs794728425 |
23andMe | rs794728425 |
SNPshot | rs794728425 |
SNPdbe | rs794728425 |
MSV3d | rs794728425 |
GWAS Ctlg | rs794728425 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794728425(CGGCCAGCTCCCATCGCCCC;CGGCCAGCTCCCATCGCCCC) |
Alt | rs794728425(CGGCCAGCTCCCATCGCCCC;CGGCCAGCTCCCATCGCCCC) |
Reference | Rs794728425(-;-) |
Significance | Pathogenic |
Disease | Cardiac arrhythmia Long QT syndrome |
Variation | info |
Gene | KCNH2 |
CLNDBN | Cardiac arrhythmia Long QT syndrome |
Reversed | 1 |
HGVS | NC_000007.13:g.150655309_150655328dup20 |
CLNSRC | |
CLNACC | RCV000181963.1, RCV000232953.2, |