rs61752119
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs61752119(A;A) |
| Make rs61752119(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 8 |
| Position | 76984016 |
| Gene | PEX2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61752119 |
| dbSNP (classic) | rs61752119 |
| ClinGen | rs61752119 |
| ebi | rs61752119 |
| HLI | rs61752119 |
| Exac | rs61752119 |
| Gnomad | rs61752119 |
| Varsome | rs61752119 |
| LitVar | rs61752119 |
| Map | rs61752119 |
| PheGenI | rs61752119 |
| Biobank | rs61752119 |
| 1000 genomes | rs61752119 |
| hgdp | rs61752119 |
| ensembl | rs61752119 |
| geneview | rs61752119 |
| scholar | rs61752119 |
| rs61752119 | |
| pharmgkb | rs61752119 |
| gwascentral | rs61752119 |
| openSNP | rs61752119 |
| 23andMe | rs61752119 |
| SNPshot | rs61752119 |
| SNPdbe | rs61752119 |
| MSV3d | rs61752119 |
| GWAS Ctlg | rs61752119 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs61752119(A;A) |
| Alt | rs61752119(A;A) |
| Reference | Rs61752119(G;G) |
| Significance | Pathogenic |
| Disease | Peroxisome biogenesis disorder 5B |
| Variation | info |
| Gene | PEX2 |
| CLNDBN | Peroxisome biogenesis disorder 5B |
| Reversed | 1 |
| HGVS | NC_000008.10:g.77896252C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014704.26, |
[PMID 9585609
] Temperature-sensitive phenotypes of peroxisome-assembly processes represent the milder forms of human peroxisome-biogenesis disorders.
