rs769303249
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs769303249(G;T) |
| Make rs769303249(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 15 |
| Position | 34793390 |
| Gene | ACTC1, LOC101928174 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs769303249 |
| dbSNP (classic) | rs769303249 |
| ClinGen | rs769303249 |
| ebi | rs769303249 |
| HLI | rs769303249 |
| Exac | rs769303249 |
| Gnomad | rs769303249 |
| Varsome | rs769303249 |
| LitVar | rs769303249 |
| Map | rs769303249 |
| PheGenI | rs769303249 |
| Biobank | rs769303249 |
| 1000 genomes | rs769303249 |
| hgdp | rs769303249 |
| ensembl | rs769303249 |
| geneview | rs769303249 |
| scholar | rs769303249 |
| rs769303249 | |
| pharmgkb | rs769303249 |
| gwascentral | rs769303249 |
| openSNP | rs769303249 |
| 23andMe | rs769303249 |
| SNPshot | rs769303249 |
| SNPdbe | rs769303249 |
| MSV3d | rs769303249 |
| GWAS Ctlg | rs769303249 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs769303249(A;A) rs769303249(T;T) |
| Alt | rs769303249(A;A) rs769303249(T;T) |
| Reference | Rs769303249(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Atrial septal defect 5 Dilated cardiomyopathy 1R Familial hypertrophic cardiomyopathy 11 not provided |
| Variation | info |
| Gene | ACTC1 LOC101928174 RP11-814P5.1 |
| CLNDBN | Atrial septal defect 5 Dilated cardiomyopathy 1R Familial hypertrophic cardiomyopathy 11 not provided |
| Reversed | 0 |
| HGVS | NC_000015.9:g.35085591G>A; NC_000015.9:g.35085591G>T |
| CLNSRC | |
| CLNACC | RCV000467806.1, RCV000418492.1, |
