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, |