rs727502823
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs727502823(A;A) |
| Make rs727502823(A;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 18 |
| Position | 12340306 |
| Gene | AFG3L2, LOC107985154 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs727502823 |
| dbSNP (classic) | rs727502823 |
| ClinGen | rs727502823 |
| ebi | rs727502823 |
| HLI | rs727502823 |
| Exac | rs727502823 |
| Gnomad | rs727502823 |
| Varsome | rs727502823 |
| LitVar | rs727502823 |
| Map | rs727502823 |
| PheGenI | rs727502823 |
| Biobank | rs727502823 |
| 1000 genomes | rs727502823 |
| hgdp | rs727502823 |
| ensembl | rs727502823 |
| geneview | rs727502823 |
| scholar | rs727502823 |
| rs727502823 | |
| pharmgkb | rs727502823 |
| gwascentral | rs727502823 |
| openSNP | rs727502823 |
| 23andMe | rs727502823 |
| SNPshot | rs727502823 |
| SNPdbe | rs727502823 |
| MSV3d | rs727502823 |
| GWAS Ctlg | rs727502823 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs727502823(A;A) |
| Alt | rs727502823(A;A) |
| Reference | Rs727502823(G;G) |
| Significance | Pathogenic |
| Disease | Spastic ataxia 5 |
| Variation | info |
| Gene | AFG3L2 |
| CLNDBN | Spastic ataxia 5, autosomal recessive |
| Reversed | 1 |
| HGVS | NC_000018.9:g.12340305C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000149914.4, |
