rs61752112
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs61752112(C;T) |
| Make rs61752112(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 35575913 |
| Gene | PEX12 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61752112 |
| dbSNP (classic) | rs61752112 |
| ClinGen | rs61752112 |
| ebi | rs61752112 |
| HLI | rs61752112 |
| Exac | rs61752112 |
| Gnomad | rs61752112 |
| Varsome | rs61752112 |
| LitVar | rs61752112 |
| Map | rs61752112 |
| PheGenI | rs61752112 |
| Biobank | rs61752112 |
| 1000 genomes | rs61752112 |
| hgdp | rs61752112 |
| ensembl | rs61752112 |
| geneview | rs61752112 |
| scholar | rs61752112 |
| rs61752112 | |
| pharmgkb | rs61752112 |
| gwascentral | rs61752112 |
| openSNP | rs61752112 |
| 23andMe | rs61752112 |
| SNPshot | rs61752112 |
| SNPdbe | rs61752112 |
| MSV3d | rs61752112 |
| GWAS Ctlg | rs61752112 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs61752112(T;T) |
| Alt | rs61752112(T;T) |
| Reference | Rs61752112(C;C) |
| Significance | Pathogenic |
| Disease | Peroxisomal biogenesis disorder 3b |
| Variation | info |
| Gene | PEX12 |
| CLNDBN | Peroxisomal biogenesis disorder 3b |
| Reversed | 1 |
| HGVS | NC_000017.10:g.33902932G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000008221.3, |
[PMID 15241794] Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism.
