rs61753238(G;G)
From SNPedia
| Rhizomelic Chondrodysplasia Punctata Type I disorder |
| Is a | genotype |
| of | rs61753238 |
| Gene | PEX7 |
| Chromosome | 6 |
| Position | 136,822,785 |
| mentioned | by |
| Magnitude | 7 |
| Repute | Bad |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;G) | 3 | carrier of one Rhizomelic Chondrodysplasia Punctata Type I disorder allele |
| (G;G) | 7 | Rhizomelic Chondrodysplasia Punctata Type I disorder |
Being homozygous for the rare rs61753238(G) variant is reported to lead to Rhizomelic Chondrodysplasia Punctata Type I.
