rs61750435
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (;) | 0 | common in clinvar |
| (-;-) | 0 | common in clinvar |
| Make rs61750435(-;A) |
| Make rs61750435(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 2406791 |
| Gene | PEX10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61750435 |
| dbSNP (classic) | rs61750435 |
| ClinGen | rs61750435 |
| ebi | rs61750435 |
| HLI | rs61750435 |
| Exac | rs61750435 |
| Gnomad | rs61750435 |
| Varsome | rs61750435 |
| LitVar | rs61750435 |
| Map | rs61750435 |
| PheGenI | rs61750435 |
| Biobank | rs61750435 |
| 1000 genomes | rs61750435 |
| hgdp | rs61750435 |
| ensembl | rs61750435 |
| geneview | rs61750435 |
| scholar | rs61750435 |
| rs61750435 | |
| pharmgkb | rs61750435 |
| gwascentral | rs61750435 |
| openSNP | rs61750435 |
| 23andMe | rs61750435 |
| SNPshot | rs61750435 |
| SNPdbe | rs61750435 |
| MSV3d | rs61750435 |
| GWAS Ctlg | rs61750435 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs61750435(A;A) |
| Alt | rs61750435(A;A) |
| Reference | Rs61750435(-;-) |
| Significance | Pathogenic |
| Disease | Peroxisome biogenesis disorder 6A Peroxisome biogenesis disorder 6B not provided |
| Variation | info |
| Gene | PEX10 |
| CLNDBN | Peroxisome biogenesis disorder 6A Peroxisome biogenesis disorder 6B not provided |
| Reversed | 1 |
| HGVS | NC_000001.10:g.2338231dupT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000007176.5, RCV000149808.5, RCV000324305.1, |
[PMID 10862081] Phenotype-genotype relationships in PEX10-deficient peroxisome biogenesis disorder patients.
