rs573267388
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs573267388(A;A) |
| Make rs573267388(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 9 |
| Position | 136416312 |
| Gene | PMPCA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs573267388 |
| dbSNP (classic) | rs573267388 |
| ClinGen | rs573267388 |
| ebi | rs573267388 |
| HLI | rs573267388 |
| Exac | rs573267388 |
| Gnomad | rs573267388 |
| Varsome | rs573267388 |
| LitVar | rs573267388 |
| Map | rs573267388 |
| PheGenI | rs573267388 |
| Biobank | rs573267388 |
| 1000 genomes | rs573267388 |
| hgdp | rs573267388 |
| ensembl | rs573267388 |
| geneview | rs573267388 |
| scholar | rs573267388 |
| rs573267388 | |
| pharmgkb | rs573267388 |
| gwascentral | rs573267388 |
| openSNP | rs573267388 |
| 23andMe | rs573267388 |
| SNPshot | rs573267388 |
| SNPdbe | rs573267388 |
| MSV3d | rs573267388 |
| GWAS Ctlg | rs573267388 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs573267388(A;A) |
| Alt | rs573267388(A;A) |
| Reference | Rs573267388(G;G) |
| Significance | Pathogenic |
| Disease | Spinocerebellar ataxia |
| Variation | info |
| Gene | PMPCA |
| CLNDBN | Spinocerebellar ataxia, autosomal recessive 2 |
| Reversed | 0 |
| HGVS | NC_000009.11:g.139310764G>A |
| CLNSRC | |
| CLNACC | RCV000416433.1, |
