rs397517071
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 6.2 | Familial Hypertrophic Cardiomyopathy |
| (T;T) | 0 | common in clinvar |
| Make rs397517071(C;C) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 15 |
| Position | 34792092 |
| Gene | ACTC1, LOC101928174 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397517071 |
| dbSNP (classic) | rs397517071 |
| ClinGen | rs397517071 |
| ebi | rs397517071 |
| HLI | rs397517071 |
| Exac | rs397517071 |
| Gnomad | rs397517071 |
| Varsome | rs397517071 |
| LitVar | rs397517071 |
| Map | rs397517071 |
| PheGenI | rs397517071 |
| Biobank | rs397517071 |
| 1000 genomes | rs397517071 |
| hgdp | rs397517071 |
| ensembl | rs397517071 |
| geneview | rs397517071 |
| scholar | rs397517071 |
| rs397517071 | |
| pharmgkb | rs397517071 |
| gwascentral | rs397517071 |
| openSNP | rs397517071 |
| 23andMe | rs397517071 |
| SNPshot | rs397517071 |
| SNPdbe | rs397517071 |
| MSV3d | rs397517071 |
| GWAS Ctlg | rs397517071 |
| Max Magnitude | 6.2 |
| ClinVar | |
|---|---|
| Risk | rs397517071(C;C) |
| Alt | rs397517071(C;C) |
| Reference | Rs397517071(T;T) |
| Significance | Probable-Pathogenic |
| Disease | not specified not provided |
| Variation | info |
| Gene | ACTC1 LOC101928174 RP11-814P5.1 |
| CLNDBN | not specified not provided |
| Reversed | 1 |
| HGVS | NC_000015.9:g.35084293A>G |
| CLNSRC | |
| CLNACC | RCV000038340.2, RCV000157793.1, |
