rs786205745
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786205745(A;A) |
Make rs786205745(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 2504538 |
Gene | CACNA1C |
is a | snp |
is | mentioned by |
dbSNP | rs786205745 |
dbSNP (classic) | rs786205745 |
ClinGen | rs786205745 |
ebi | rs786205745 |
HLI | rs786205745 |
Exac | rs786205745 |
Gnomad | rs786205745 |
Varsome | rs786205745 |
LitVar | rs786205745 |
Map | rs786205745 |
PheGenI | rs786205745 |
Biobank | rs786205745 |
1000 genomes | rs786205745 |
hgdp | rs786205745 |
ensembl | rs786205745 |
geneview | rs786205745 |
scholar | rs786205745 |
rs786205745 | |
pharmgkb | rs786205745 |
gwascentral | rs786205745 |
openSNP | rs786205745 |
23andMe | rs786205745 |
SNPshot | rs786205745 |
SNPdbe | rs786205745 |
MSV3d | rs786205745 |
GWAS Ctlg | rs786205745 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205745(A;A) rs786205745(C;C) |
Alt | rs786205745(A;A) rs786205745(C;C) |
Reference | Rs786205745(G;G) |
Significance | Pathogenic |
Disease | not provided Timothy syndrome |
Variation | info |
Gene | CACNA1C |
CLNDBN | not provided Timothy syndrome |
Reversed | 0 |
HGVS | NC_000012.11:g.2613704G>A; NC_000012.11:g.2613704G>C |
CLNSRC | |
CLNACC | RCV000170769.2, RCV000192272.1, RCV000170770.2, RCV000208468.1, |