rs1051375
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs1051375(A;A) |
| Make rs1051375(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 2679713 |
| Gene | CACNA1C, CACNA1C-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1051375 |
| dbSNP (classic) | rs1051375 |
| ClinGen | rs1051375 |
| ebi | rs1051375 |
| HLI | rs1051375 |
| Exac | rs1051375 |
| Gnomad | rs1051375 |
| Varsome | rs1051375 |
| LitVar | rs1051375 |
| Map | rs1051375 |
| PheGenI | rs1051375 |
| Biobank | rs1051375 |
| 1000 genomes | rs1051375 |
| hgdp | rs1051375 |
| ensembl | rs1051375 |
| geneview | rs1051375 |
| scholar | rs1051375 |
| rs1051375 | |
| pharmgkb | rs1051375 |
| gwascentral | rs1051375 |
| openSNP | rs1051375 |
| 23andMe | rs1051375 |
| SNPshot | rs1051375 |
| SNPdbe | rs1051375 |
| MSV3d | rs1051375 |
| GWAS Ctlg | rs1051375 |
| GMAF | 0.4311 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 23680436] Association of genetic variation in CACNA1C with bipolar disorder in Han Chinese
| ClinVar | |
|---|---|
| Risk | rs1051375(A;A) |
| Alt | rs1051375(A;A) |
| Reference | Rs1051375(G;G) |
| Significance | Non-pathogenic |
| Disease | not specified Cardiovascular phenotype Timothy syndrome Brugada syndrome |
| Variation | info |
| Gene | CACNA1C-AS1 CACNA1C |
| CLNDBN | not specified Cardiovascular phenotype Timothy syndrome Brugada syndrome |
| Reversed | 0 |
| HGVS | NC_000012.11:g.2788879G>A |
| CLNSRC | ClinVar Emory University GeneDx |
| CLNACC | RCV000079298.7, RCV000251547.1, RCV000260681.1, RCV000297394.1, |
