rs748713829
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;T) | 5.5 | Possible mutation leading to pigment dispersion syndrome and pigmentary glaucoma |
| Make rs748713829(T;T) |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | 12 |
| Position | 55957309 |
| Gene | PMEL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs748713829 |
| dbSNP (classic) | rs748713829 |
| ClinGen | rs748713829 |
| ebi | rs748713829 |
| HLI | rs748713829 |
| Exac | rs748713829 |
| Gnomad | rs748713829 |
| Varsome | rs748713829 |
| LitVar | rs748713829 |
| Map | rs748713829 |
| PheGenI | rs748713829 |
| Biobank | rs748713829 |
| 1000 genomes | rs748713829 |
| hgdp | rs748713829 |
| ensembl | rs748713829 |
| geneview | rs748713829 |
| scholar | rs748713829 |
| rs748713829 | |
| pharmgkb | rs748713829 |
| gwascentral | rs748713829 |
| openSNP | rs748713829 |
| 23andMe | rs748713829 |
| SNPshot | rs748713829 |
| SNPdbe | rs748713829 |
| MSV3d | rs748713829 |
| GWAS Ctlg | rs748713829 |
| Max Magnitude | 5.5 |
aka c.994G>A (p.Val332Ile or V332I)
The variant allele is mentioned in a 2018 publication as a non-synonymous mutation in the PMEL gene, potentially acting in a dominant manner causing pigment dispersion syndrome (PDS) in the iris, which 15-20% of the time develops into pigmentary glaucoma (PG), a major cause of blindness in young adults.[PMID 30561643
]
