rs151344520
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs151344520(A;A) |
| Make rs151344520(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 12337445 |
| Gene | AFG3L2, LOC107985154 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs151344520 |
| dbSNP (classic) | rs151344520 |
| ClinGen | rs151344520 |
| ebi | rs151344520 |
| HLI | rs151344520 |
| Exac | rs151344520 |
| Gnomad | rs151344520 |
| Varsome | rs151344520 |
| LitVar | rs151344520 |
| Map | rs151344520 |
| PheGenI | rs151344520 |
| Biobank | rs151344520 |
| 1000 genomes | rs151344520 |
| hgdp | rs151344520 |
| ensembl | rs151344520 |
| geneview | rs151344520 |
| scholar | rs151344520 |
| rs151344520 | |
| pharmgkb | rs151344520 |
| gwascentral | rs151344520 |
| openSNP | rs151344520 |
| 23andMe | rs151344520 |
| SNPshot | rs151344520 |
| SNPdbe | rs151344520 |
| MSV3d | rs151344520 |
| GWAS Ctlg | rs151344520 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs151344520(A;A) |
| Alt | rs151344520(A;A) |
| Reference | Rs151344520(G;G) |
| Significance | Pathogenic |
| Disease | Spinocerebellar ataxia 28 |
| Variation | info |
| Gene | AFG3L2 |
| CLNDBN | Spinocerebellar ataxia 28 |
| Reversed | 1 |
| HGVS | NC_000018.9:g.12337444C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005804.3, |
