rs750835733
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs750835733(C;G) |
Make rs750835733(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 2593252 |
Gene | CACNA1C |
is a | snp |
is | mentioned by |
dbSNP | rs750835733 |
dbSNP (classic) | rs750835733 |
ClinGen | rs750835733 |
ebi | rs750835733 |
HLI | rs750835733 |
Exac | rs750835733 |
Gnomad | rs750835733 |
Varsome | rs750835733 |
LitVar | rs750835733 |
Map | rs750835733 |
PheGenI | rs750835733 |
Biobank | rs750835733 |
1000 genomes | rs750835733 |
hgdp | rs750835733 |
ensembl | rs750835733 |
geneview | rs750835733 |
scholar | rs750835733 |
rs750835733 | |
pharmgkb | rs750835733 |
gwascentral | rs750835733 |
openSNP | rs750835733 |
23andMe | rs750835733 |
SNPshot | rs750835733 |
SNPdbe | rs750835733 |
MSV3d | rs750835733 |
GWAS Ctlg | rs750835733 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs750835733(G;G) rs750835733(T;T) |
Alt | rs750835733(G;G) rs750835733(T;T) |
Reference | Rs750835733(C;C) |
Significance | Probable-Pathogenic |
Disease | Long QT syndrome |
Variation | info |
Gene | CACNA1C |
CLNDBN | Long QT syndrome |
Reversed | 0 |
HGVS | NC_000012.11:g.2702418C>T |
CLNSRC | |
CLNACC | RCV000208178.1, |