rs794728430
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(TGAGGGCGCCGC;TGAGGGCGCCGC) | 0 | common in clinvar |
Make rs794728430(CT;CT) |
Make rs794728430(CT;TGAGGGCGCCGC) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 150958046 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs794728430 |
dbSNP (classic) | rs794728430 |
ClinGen | rs794728430 |
ebi | rs794728430 |
HLI | rs794728430 |
Exac | rs794728430 |
Gnomad | rs794728430 |
Varsome | rs794728430 |
LitVar | rs794728430 |
Map | rs794728430 |
PheGenI | rs794728430 |
Biobank | rs794728430 |
1000 genomes | rs794728430 |
hgdp | rs794728430 |
ensembl | rs794728430 |
geneview | rs794728430 |
scholar | rs794728430 |
rs794728430 | |
pharmgkb | rs794728430 |
gwascentral | rs794728430 |
openSNP | rs794728430 |
23andMe | rs794728430 |
SNPshot | rs794728430 |
SNPdbe | rs794728430 |
MSV3d | rs794728430 |
GWAS Ctlg | rs794728430 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794728430(CT;CT) |
Alt | rs794728430(CT;CT) |
Reference | Rs794728430(TGAGGGCGCCGC;TGAGGGCGCCGC) |
Significance | Pathogenic |
Disease | Cardiac arrhythmia |
Variation | info |
Gene | KCNH2 |
CLNDBN | Cardiac arrhythmia |
Reversed | 1 |
HGVS | NC_000007.13:g.150655134_150655145delGCGGCGCCCTCAinsAG |
CLNSRC | |
CLNACC | RCV000181968.1, |