rs773241850
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common/normal |
| Make rs773241850(C;C) |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | 12 |
| Position | 55961319 |
| Gene | PMEL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs773241850 |
| dbSNP (classic) | rs773241850 |
| ClinGen | rs773241850 |
| ebi | rs773241850 |
| HLI | rs773241850 |
| Exac | rs773241850 |
| Gnomad | rs773241850 |
| Varsome | rs773241850 |
| LitVar | rs773241850 |
| Map | rs773241850 |
| PheGenI | rs773241850 |
| Biobank | rs773241850 |
| 1000 genomes | rs773241850 |
| hgdp | rs773241850 |
| ensembl | rs773241850 |
| geneview | rs773241850 |
| scholar | rs773241850 |
| rs773241850 | |
| pharmgkb | rs773241850 |
| gwascentral | rs773241850 |
| openSNP | rs773241850 |
| 23andMe | rs773241850 |
| SNPshot | rs773241850 |
| SNPdbe | rs773241850 |
| MSV3d | rs773241850 |
| GWAS Ctlg | rs773241850 |
| Max Magnitude | 0 |
aka c.332A>G (p.Asn111Ser or N111S)
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
]
