rs201675951
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs201675951(A;A) |
| Make rs201675951(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 237610770 |
| Gene | RYR2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201675951 |
| dbSNP (classic) | rs201675951 |
| ClinGen | rs201675951 |
| ebi | rs201675951 |
| HLI | rs201675951 |
| Exac | rs201675951 |
| Gnomad | rs201675951 |
| Varsome | rs201675951 |
| LitVar | rs201675951 |
| Map | rs201675951 |
| PheGenI | rs201675951 |
| Biobank | rs201675951 |
| 1000 genomes | rs201675951 |
| hgdp | rs201675951 |
| ensembl | rs201675951 |
| geneview | rs201675951 |
| scholar | rs201675951 |
| rs201675951 | |
| pharmgkb | rs201675951 |
| gwascentral | rs201675951 |
| openSNP | rs201675951 |
| 23andMe | rs201675951 |
| SNPshot | rs201675951 |
| SNPdbe | rs201675951 |
| MSV3d | rs201675951 |
| GWAS Ctlg | rs201675951 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs201675951(A;A) |
| Alt | rs201675951(A;A) |
| Reference | Rs201675951(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Primary dilated cardiomyopathy Primary familial hypertrophic cardiomyopathy not specified |
| Variation | info |
| Gene | RYR2 |
| CLNDBN | Primary dilated cardiomyopathy Primary familial hypertrophic cardiomyopathy not specified |
| Reversed | 0 |
| HGVS | NC_000001.10:g.237774070G>A |
| CLNSRC | ClinVar |
| CLNACC | RCV000143946.2, RCV000157455.1, RCV000182725.2, |
