rs17118154
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| (C;G) | 5.5 | Possible mutation leading to pigment dispersion syndrome and pigmentary glaucoma |
| Make rs17118154(G;G) |
| Reference | GRCh38.p7 38.3/151 |
| Chromosome | 12 |
| Position | 55957193 |
| Gene | PMEL |
| is a | snp |
| is | mentioned by |
| dbSNP | rs17118154 |
| dbSNP (classic) | rs17118154 |
| ClinGen | rs17118154 |
| ebi | rs17118154 |
| HLI | rs17118154 |
| Exac | rs17118154 |
| Gnomad | rs17118154 |
| Varsome | rs17118154 |
| LitVar | rs17118154 |
| Map | rs17118154 |
| PheGenI | rs17118154 |
| Biobank | rs17118154 |
| 1000 genomes | rs17118154 |
| hgdp | rs17118154 |
| ensembl | rs17118154 |
| geneview | rs17118154 |
| scholar | rs17118154 |
| rs17118154 | |
| pharmgkb | rs17118154 |
| gwascentral | rs17118154 |
| openSNP | rs17118154 |
| 23andMe | rs17118154 |
| SNPshot | rs17118154 |
| SNPdbe | rs17118154 |
| MSV3d | rs17118154 |
| GWAS Ctlg | rs17118154 |
| Max Magnitude | 5.5 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
aka c.1110G>C (p.Glu370Asp or E370D)
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
]
