rs61750434
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs61750434(C;T) |
| Make rs61750434(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 2408679 |
| Gene | PEX10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61750434 |
| dbSNP (classic) | rs61750434 |
| ClinGen | rs61750434 |
| ebi | rs61750434 |
| HLI | rs61750434 |
| Exac | rs61750434 |
| Gnomad | rs61750434 |
| Varsome | rs61750434 |
| LitVar | rs61750434 |
| Map | rs61750434 |
| PheGenI | rs61750434 |
| Biobank | rs61750434 |
| 1000 genomes | rs61750434 |
| hgdp | rs61750434 |
| ensembl | rs61750434 |
| geneview | rs61750434 |
| scholar | rs61750434 |
| rs61750434 | |
| pharmgkb | rs61750434 |
| gwascentral | rs61750434 |
| openSNP | rs61750434 |
| 23andMe | rs61750434 |
| SNPshot | rs61750434 |
| SNPdbe | rs61750434 |
| MSV3d | rs61750434 |
| GWAS Ctlg | rs61750434 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs61750434(T;T) |
| Alt | rs61750434(T;T) |
| Reference | Rs61750434(C;C) |
| Significance | Pathogenic |
| Disease | Peroxisome biogenesis disorder 6B |
| Variation | info |
| Gene | PEX10 |
| CLNDBN | Peroxisome biogenesis disorder 6B |
| Reversed | 1 |
| HGVS | NC_000001.10:g.2340118G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007174.3, |
[PMID 9683594
] Identification of PEX10, the gene defective in complementation group 7 of the peroxisome-biogenesis disorders.
