rs121918304
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of a Parkinson disease mutation |
| (T;T) | 7 | Parkinson disease, type 15 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 32498453 |
| Gene | FBXO7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121918304 |
| dbSNP (classic) | rs121918304 |
| ClinGen | rs121918304 |
| ebi | rs121918304 |
| HLI | rs121918304 |
| Exac | rs121918304 |
| Gnomad | rs121918304 |
| Varsome | rs121918304 |
| LitVar | rs121918304 |
| Map | rs121918304 |
| PheGenI | rs121918304 |
| Biobank | rs121918304 |
| 1000 genomes | rs121918304 |
| hgdp | rs121918304 |
| ensembl | rs121918304 |
| geneview | rs121918304 |
| scholar | rs121918304 |
| rs121918304 | |
| pharmgkb | rs121918304 |
| gwascentral | rs121918304 |
| openSNP | rs121918304 |
| 23andMe | rs121918304 |
| SNPshot | rs121918304 |
| SNPdbe | rs121918304 |
| MSV3d | rs121918304 |
| GWAS Ctlg | rs121918304 |
| Max Magnitude | 7 |
aka c.1492C>T (p.Arg498Ter, R498X or R498*)
Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal recessive Parkinson disease (type 15)
See also OMIM 605648.0002
| ClinVar | |
|---|---|
| Risk | rs121918304(A;A) Rs121918304(T;T) |
| Alt | rs121918304(A;A) Rs121918304(T;T) |
| Reference | Rs121918304(C;C) |
| Significance | Pathogenic |
| Disease | Parkinson disease 15 |
| Variation | info |
| Gene | FBXO7 |
| CLNDBN | Parkinson disease 15 |
| Reversed | 0 |
| HGVS | NC_000022.10:g.32894440C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000005078.3, |
