rs759274321
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs759274321(C;T) |
Make rs759274321(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 3 |
Position | 53673723 |
Gene | CACNA1D |
is a | snp |
is | mentioned by |
dbSNP | rs759274321 |
dbSNP (classic) | rs759274321 |
ClinGen | rs759274321 |
ebi | rs759274321 |
HLI | rs759274321 |
Exac | rs759274321 |
Gnomad | rs759274321 |
Varsome | rs759274321 |
LitVar | rs759274321 |
Map | rs759274321 |
PheGenI | rs759274321 |
Biobank | rs759274321 |
1000 genomes | rs759274321 |
hgdp | rs759274321 |
ensembl | rs759274321 |
geneview | rs759274321 |
scholar | rs759274321 |
rs759274321 | |
pharmgkb | rs759274321 |
gwascentral | rs759274321 |
openSNP | rs759274321 |
23andMe | rs759274321 |
SNPshot | rs759274321 |
SNPdbe | rs759274321 |
MSV3d | rs759274321 |
GWAS Ctlg | rs759274321 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs759274321(T;T) |
Alt | rs759274321(T;T) |
Reference | Rs759274321(C;C) |
Significance | Pathogenic |
Disease | Sinoatrial node dysfunction and deafness |
Variation | info |
Gene | CACNA1D |
CLNDBN | Sinoatrial node dysfunction and deafness |
Reversed | 0 |
HGVS | NC_000003.11:g.53707750C>T |
CLNSRC | |
CLNACC | RCV000454162.1, |