rs80315385
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs80315385(A;A) |
Make rs80315385(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 2504932 |
Gene | CACNA1C |
is a | snp |
is | mentioned by |
dbSNP | rs80315385 |
dbSNP (classic) | rs80315385 |
ClinGen | rs80315385 |
ebi | rs80315385 |
HLI | rs80315385 |
Exac | rs80315385 |
Gnomad | rs80315385 |
Varsome | rs80315385 |
LitVar | rs80315385 |
Map | rs80315385 |
PheGenI | rs80315385 |
Biobank | rs80315385 |
1000 genomes | rs80315385 |
hgdp | rs80315385 |
ensembl | rs80315385 |
geneview | rs80315385 |
scholar | rs80315385 |
rs80315385 | |
pharmgkb | rs80315385 |
gwascentral | rs80315385 |
openSNP | rs80315385 |
23andMe | rs80315385 |
SNPshot | rs80315385 |
SNPdbe | rs80315385 |
MSV3d | rs80315385 |
GWAS Ctlg | rs80315385 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80315385(A;A) |
Alt | rs80315385(A;A) |
Reference | Rs80315385(G;G) |
Significance | Pathogenic |
Disease | Timothy syndrome Congenital long QT syndrome not provided |
Variation | info |
Gene | CACNA1C |
CLNDBN | Timothy syndrome Congenital long QT syndrome not provided |
Reversed | 0 |
HGVS | NC_000012.11:g.2614098G>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000019200.24, RCV000058284.3, RCV000422493.1, |
[PMID 15863612] Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
[PMID 15863612] Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.