rs767734253
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs767734253(C;C) |
| Make rs767734253(C;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 15 |
| Position | 34793418 |
| Gene | ACTC1, LOC101928174 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs767734253 |
| dbSNP (classic) | rs767734253 |
| ClinGen | rs767734253 |
| ebi | rs767734253 |
| HLI | rs767734253 |
| Exac | rs767734253 |
| Gnomad | rs767734253 |
| Varsome | rs767734253 |
| LitVar | rs767734253 |
| Map | rs767734253 |
| PheGenI | rs767734253 |
| Biobank | rs767734253 |
| 1000 genomes | rs767734253 |
| hgdp | rs767734253 |
| ensembl | rs767734253 |
| geneview | rs767734253 |
| scholar | rs767734253 |
| rs767734253 | |
| pharmgkb | rs767734253 |
| gwascentral | rs767734253 |
| openSNP | rs767734253 |
| 23andMe | rs767734253 |
| SNPshot | rs767734253 |
| SNPdbe | rs767734253 |
| MSV3d | rs767734253 |
| GWAS Ctlg | rs767734253 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs767734253(C;C) |
| Alt | rs767734253(C;C) |
| Reference | Rs767734253(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Familial hypertrophic cardiomyopathy 11 |
| Variation | info |
| Gene | ACTC1 LOC101928174 RP11-814P5.1 |
| CLNDBN | Familial hypertrophic cardiomyopathy 11 |
| Reversed | 0 |
| HGVS | NC_000015.9:g.35085619T>C |
| CLNSRC | |
| CLNACC | RCV000201495.1, |
