rs730880056
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs730880056(C;C) |
Make rs730880056(C;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 2593261 |
Gene | CACNA1C |
is a | snp |
is | mentioned by |
dbSNP | rs730880056 |
dbSNP (classic) | rs730880056 |
ClinGen | rs730880056 |
ebi | rs730880056 |
HLI | rs730880056 |
Exac | rs730880056 |
Gnomad | rs730880056 |
Varsome | rs730880056 |
LitVar | rs730880056 |
Map | rs730880056 |
PheGenI | rs730880056 |
Biobank | rs730880056 |
1000 genomes | rs730880056 |
hgdp | rs730880056 |
ensembl | rs730880056 |
geneview | rs730880056 |
scholar | rs730880056 |
rs730880056 | |
pharmgkb | rs730880056 |
gwascentral | rs730880056 |
openSNP | rs730880056 |
23andMe | rs730880056 |
SNPshot | rs730880056 |
SNPdbe | rs730880056 |
MSV3d | rs730880056 |
GWAS Ctlg | rs730880056 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs730880056(A;A) rs730880056(C;C) |
Alt | rs730880056(A;A) rs730880056(C;C) |
Reference | Rs730880056(G;G) |
Significance | Probable-Pathogenic |
Disease | Long QT syndrome |
Variation | info |
Gene | CACNA1C |
CLNDBN | Long QT syndrome |
Reversed | 0 |
HGVS | NC_000012.11:g.2702427G>C |
CLNSRC | |
CLNACC | RCV000157123.1, |