rs62653611
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs62653611(A;G) |
| Make rs62653611(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 6 |
| Position | 136898192 |
| Gene | PEX7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs62653611 |
| dbSNP (classic) | rs62653611 |
| ClinGen | rs62653611 |
| ebi | rs62653611 |
| HLI | rs62653611 |
| Exac | rs62653611 |
| Gnomad | rs62653611 |
| Varsome | rs62653611 |
| LitVar | rs62653611 |
| Map | rs62653611 |
| PheGenI | rs62653611 |
| Biobank | rs62653611 |
| 1000 genomes | rs62653611 |
| hgdp | rs62653611 |
| ensembl | rs62653611 |
| geneview | rs62653611 |
| scholar | rs62653611 |
| rs62653611 | |
| pharmgkb | rs62653611 |
| gwascentral | rs62653611 |
| openSNP | rs62653611 |
| 23andMe | rs62653611 |
| SNPshot | rs62653611 |
| SNPdbe | rs62653611 |
| MSV3d | rs62653611 |
| GWAS Ctlg | rs62653611 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs62653611(G;G) |
| Alt | rs62653611(G;G) |
| Reference | Rs62653611(A;A) |
| Significance | Pathogenic |
| Disease | Rhizomelic chondrodysplasia punctata type 1 |
| Variation | info |
| Gene | PEX7 |
| CLNDBN | Rhizomelic chondrodysplasia punctata type 1 |
| Reversed | 0 |
| HGVS | NC_000006.11:g.137219330A>G |
| CLNSRC | ClinVar GeneReviews |
| CLNACC | RCV000032118.1, |
