rs398122403
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 7 | Parkinson disease, early-onset, type 20 |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 32695106 |
| Gene | SYNJ1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398122403 |
| dbSNP (classic) | rs398122403 |
| ClinGen | rs398122403 |
| ebi | rs398122403 |
| HLI | rs398122403 |
| Exac | rs398122403 |
| Gnomad | rs398122403 |
| Varsome | rs398122403 |
| LitVar | rs398122403 |
| Map | rs398122403 |
| PheGenI | rs398122403 |
| Biobank | rs398122403 |
| 1000 genomes | rs398122403 |
| hgdp | rs398122403 |
| ensembl | rs398122403 |
| geneview | rs398122403 |
| scholar | rs398122403 |
| rs398122403 | |
| pharmgkb | rs398122403 |
| gwascentral | rs398122403 |
| openSNP | rs398122403 |
| 23andMe | rs398122403 |
| SNPshot | rs398122403 |
| SNPdbe | rs398122403 |
| MSV3d | rs398122403 |
| GWAS Ctlg | rs398122403 |
| Max Magnitude | 7 |
aka c.773G>A (p.Arg258Gln or R258Q)
Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal recessive, early-onset Parkinson disease (type 20)
See also OMIM 604297.0001
| ClinVar | |
|---|---|
| Risk | Rs398122403(A;A) |
| Alt | Rs398122403(A;A) |
| Reference | Rs398122403(G;G) |
| Significance | Pathogenic |
| Disease | Parkinson disease 20 |
| Variation | info |
| Gene | SYNJ1 |
| CLNDBN | Parkinson disease 20, early-onset |
| Reversed | 1 |
| HGVS | NC_000021.8:g.34067416C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000074432.5, |
