rs794728469
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
(C;C) | 0 | common in clinvar |
Make rs794728469(-;GGGG) |
Make rs794728469(GGGG;GGGG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 7 |
Position | 150947372 |
Gene | KCNH2 |
is a | snp |
is | mentioned by |
dbSNP | rs794728469 |
dbSNP (classic) | rs794728469 |
ClinGen | rs794728469 |
ebi | rs794728469 |
HLI | rs794728469 |
Exac | rs794728469 |
Gnomad | rs794728469 |
Varsome | rs794728469 |
LitVar | rs794728469 |
Map | rs794728469 |
PheGenI | rs794728469 |
Biobank | rs794728469 |
1000 genomes | rs794728469 |
hgdp | rs794728469 |
ensembl | rs794728469 |
geneview | rs794728469 |
scholar | rs794728469 |
rs794728469 | |
pharmgkb | rs794728469 |
gwascentral | rs794728469 |
openSNP | rs794728469 |
23andMe | rs794728469 |
SNPshot | rs794728469 |
SNPdbe | rs794728469 |
MSV3d | rs794728469 |
GWAS Ctlg | rs794728469 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794728469(GGGG;GGGG) rs794728469(GG;GG) rs794728469(G;G) |
Alt | rs794728469(GGGG;GGGG) rs794728469(GG;GG) rs794728469(G;G) |
Reference | Rs794728469(-;-) |
Significance | Pathogenic |
Disease | not provided Cardiac arrhythmia |
Variation | info |
Gene | KCNH2 |
CLNDBN | not provided Cardiac arrhythmia |
Reversed | 1 |
HGVS | NC_000007.13:g.150644461_150644462dupCC; NC_000007.13:g.150644461_150644464dupCCCC; NC_000007.13:g.150644461dupC |
CLNSRC | |
CLNACC | RCV000412915.1, RCV000182009.1, RCV000182065.3, |