rs786205748
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs786205748(C;T) |
Make rs786205748(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 12 |
Position | 2566465 |
Gene | CACNA1C |
is a | snp |
is | mentioned by |
dbSNP | rs786205748 |
dbSNP (classic) | rs786205748 |
ClinGen | rs786205748 |
ebi | rs786205748 |
HLI | rs786205748 |
Exac | rs786205748 |
Gnomad | rs786205748 |
Varsome | rs786205748 |
LitVar | rs786205748 |
Map | rs786205748 |
PheGenI | rs786205748 |
Biobank | rs786205748 |
1000 genomes | rs786205748 |
hgdp | rs786205748 |
ensembl | rs786205748 |
geneview | rs786205748 |
scholar | rs786205748 |
rs786205748 | |
pharmgkb | rs786205748 |
gwascentral | rs786205748 |
openSNP | rs786205748 |
23andMe | rs786205748 |
SNPshot | rs786205748 |
SNPdbe | rs786205748 |
MSV3d | rs786205748 |
GWAS Ctlg | rs786205748 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205748(T;T) |
Alt | rs786205748(T;T) |
Reference | Rs786205748(C;C) |
Significance | Pathogenic |
Disease | not provided Long QT syndrome |
Variation | info |
Gene | CACNA1C |
CLNDBN | not provided Long QT syndrome |
Reversed | 0 |
HGVS | NC_000012.11:g.2675631C>T |
CLNSRC | |
CLNACC | RCV000170780.5, RCV000232889.2, |