rs199920384
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs199920384(A;G) |
| Make rs199920384(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 1 |
| Position | 236762612 |
| Gene | ACTN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs199920384 |
| dbSNP (classic) | rs199920384 |
| ClinGen | rs199920384 |
| ebi | rs199920384 |
| HLI | rs199920384 |
| Exac | rs199920384 |
| Gnomad | rs199920384 |
| Varsome | rs199920384 |
| LitVar | rs199920384 |
| Map | rs199920384 |
| PheGenI | rs199920384 |
| Biobank | rs199920384 |
| 1000 genomes | rs199920384 |
| hgdp | rs199920384 |
| ensembl | rs199920384 |
| geneview | rs199920384 |
| scholar | rs199920384 |
| rs199920384 | |
| pharmgkb | rs199920384 |
| gwascentral | rs199920384 |
| openSNP | rs199920384 |
| 23andMe | rs199920384 |
| SNPshot | rs199920384 |
| SNPdbe | rs199920384 |
| MSV3d | rs199920384 |
| GWAS Ctlg | rs199920384 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs199920384(G;G) |
| Alt | rs199920384(G;G) |
| Reference | Rs199920384(A;A) |
| Significance | Probable-Pathogenic |
| Disease | not specified Dilated cardiomyopathy 1AA Primary familial hypertrophic cardiomyopathy |
| Variation | info |
| Gene | ACTN2 |
| CLNDBN | not specified Dilated cardiomyopathy 1AA Primary familial hypertrophic cardiomyopathy |
| Reversed | 0 |
| HGVS | NC_000001.10:g.236925912A>G |
| CLNSRC | |
| CLNACC | RCV000183279.3, RCV000472395.1, |
