rs374528680
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs374528680(C;C) |
Make rs374528680(C;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 2686216 |
Gene | CACNA1C, CACNA1C-AS1 |
is a | snp |
is | mentioned by |
dbSNP | rs374528680 |
dbSNP (classic) | rs374528680 |
ClinGen | rs374528680 |
ebi | rs374528680 |
HLI | rs374528680 |
Exac | rs374528680 |
Gnomad | rs374528680 |
Varsome | rs374528680 |
LitVar | rs374528680 |
Map | rs374528680 |
PheGenI | rs374528680 |
Biobank | rs374528680 |
1000 genomes | rs374528680 |
hgdp | rs374528680 |
ensembl | rs374528680 |
geneview | rs374528680 |
scholar | rs374528680 |
rs374528680 | |
pharmgkb | rs374528680 |
gwascentral | rs374528680 |
openSNP | rs374528680 |
23andMe | rs374528680 |
SNPshot | rs374528680 |
SNPdbe | rs374528680 |
MSV3d | rs374528680 |
GWAS Ctlg | rs374528680 |
Max Magnitude | 0 |
[PMID 25184293] A CACNA1C Variant Associated with Reduced Voltage-Dependent Inactivation, Increased CaV1.2 Channel Window Current, and Arrhythmogenesis
ClinVar | |
---|---|
Risk | rs374528680(C;C) |
Alt | rs374528680(C;C) |
Reference | Rs374528680(G;G) |
Significance | Unknown |
Disease | not provided Long QT syndrome not specified |
Variation | info |
Gene | CACNA1C-AS1 CACNA1C |
CLNDBN | not provided Long QT syndrome not specified |
Reversed | 0 |
HGVS | NC_000012.11:g.2795382G>C |
CLNSRC | |
CLNACC | RCV000171619.3, RCV000226828.1, RCV000259175.1, |