rs71799110
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 3 | Carrier of a Parkinson disease mutation |
| (G;G) | 7 | Parkinson disease, type 15 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 32493269 |
| Gene | FBXO7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs71799110 |
| dbSNP (classic) | rs71799110 |
| ClinGen | rs71799110 |
| ebi | rs71799110 |
| HLI | rs71799110 |
| Exac | rs71799110 |
| Gnomad | rs71799110 |
| Varsome | rs71799110 |
| LitVar | rs71799110 |
| Map | rs71799110 |
| PheGenI | rs71799110 |
| Biobank | rs71799110 |
| 1000 genomes | rs71799110 |
| hgdp | rs71799110 |
| ensembl | rs71799110 |
| geneview | rs71799110 |
| scholar | rs71799110 |
| rs71799110 | |
| pharmgkb | rs71799110 |
| gwascentral | rs71799110 |
| openSNP | rs71799110 |
| 23andMe | rs71799110 |
| SNPshot | rs71799110 |
| SNPdbe | rs71799110 |
| MSV3d | rs71799110 |
| GWAS Ctlg | rs71799110 |
| GMAF | 0.0004591 |
| Max Magnitude | 7 |
aka c.1132C>G (p.Arg378Gly or R378G)
Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal recessive Parkinson disease (type 15)
See also OMIM 605648.0001
| ClinVar | |
|---|---|
| Risk | Rs71799110(G;G) rs71799110(T;T) |
| Alt | Rs71799110(G;G) rs71799110(T;T) |
| Reference | Rs71799110(C;C) |
| Significance | Pathogenic |
| Disease | Parkinson disease 15 |
| Variation | info |
| Gene | FBXO7 |
| CLNDBN | Parkinson disease 15 |
| Reversed | 0 |
| HGVS | NC_000022.10:g.32889256C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000005077.2, |
[PMID 18513678
] Genome-wide linkage analysis of a Parkinsonian-pyramidal syndrome pedigree by 500 K SNP arrays.
