rs61750412
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (CA;CA) | 0 | common in clinvar |
| Make rs61750412(-;-) |
| Make rs61750412(-;CA) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 7 |
| Position | 92504768 |
| Gene | PEX1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs61750412 |
| dbSNP (classic) | rs61750412 |
| ClinGen | rs61750412 |
| ebi | rs61750412 |
| HLI | rs61750412 |
| Exac | rs61750412 |
| Gnomad | rs61750412 |
| Varsome | rs61750412 |
| LitVar | rs61750412 |
| Map | rs61750412 |
| PheGenI | rs61750412 |
| Biobank | rs61750412 |
| 1000 genomes | rs61750412 |
| hgdp | rs61750412 |
| ensembl | rs61750412 |
| geneview | rs61750412 |
| scholar | rs61750412 |
| rs61750412 | |
| pharmgkb | rs61750412 |
| gwascentral | rs61750412 |
| openSNP | rs61750412 |
| 23andMe | rs61750412 |
| SNPshot | rs61750412 |
| SNPdbe | rs61750412 |
| MSV3d | rs61750412 |
| GWAS Ctlg | rs61750412 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs61750412(-;-) |
| Alt | rs61750412(-;-) |
| Reference | Rs61750412(CA;CA) |
| Significance | Probable-Pathogenic |
| Disease | Zellweger syndrome Peroxisome biogenesis disorder 1B |
| Variation | info |
| Gene | PEX1 |
| CLNDBN | Zellweger syndrome Peroxisome biogenesis disorder 1B |
| Reversed | 1 |
| HGVS | NC_000007.13:g.92134082_92134083delTG |
| CLNSRC | |
| CLNACC | RCV000409983.1, RCV000411506.1, |
