rs61752132
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs61752132(C;C) |
| Make rs61752132(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 22 |
| Position | 18078510 |
| Gene | PEX26 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61752132 |
| dbSNP (classic) | rs61752132 |
| ClinGen | rs61752132 |
| ebi | rs61752132 |
| HLI | rs61752132 |
| Exac | rs61752132 |
| Gnomad | rs61752132 |
| Varsome | rs61752132 |
| LitVar | rs61752132 |
| Map | rs61752132 |
| PheGenI | rs61752132 |
| Biobank | rs61752132 |
| 1000 genomes | rs61752132 |
| hgdp | rs61752132 |
| ensembl | rs61752132 |
| geneview | rs61752132 |
| scholar | rs61752132 |
| rs61752132 | |
| pharmgkb | rs61752132 |
| gwascentral | rs61752132 |
| openSNP | rs61752132 |
| 23andMe | rs61752132 |
| SNPshot | rs61752132 |
| SNPdbe | rs61752132 |
| MSV3d | rs61752132 |
| GWAS Ctlg | rs61752132 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs61752132(C;C) |
| Alt | rs61752132(C;C) |
| Reference | Rs61752132(T;T) |
| Significance | Pathogenic |
| Disease | Peroxisome biogenesis disorder 7B Zellweger syndrome |
| Variation | info |
| Gene | PEX26 |
| CLNDBN | Peroxisome biogenesis disorder 7B Zellweger syndrome |
| Reversed | 0 |
| HGVS | NC_000022.10:g.18561276T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000002240.3, RCV000351940.1, |
[PMID 15858711
] Alternative splicing suggests extended function of PEX26 in peroxisome biogenesis.
