rs17118154
A SNP in the PMEL gene on chromosome 12. Its most notable genotype is C;G: Possible mutation leading to pigment dispersion syndrome and pigmentary glaucoma
- Gene
- PMEL
- Location
- Chr 1255,957,193 (GRCh38)
- Highest magnitude
- 5.5Very important
- Tested on
- Not on consumer chips
Genotypes
As shown in 23andMe and AncestryDNA files.
- C;CGoodcommon/normal
- C;GMost notableBadPossible mutation leading to pigment dispersion syndrome and pigmentary glaucoma
On SNPedia: (C;C), (C;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.
Frequency
Share of each genotype in 4 HapMap populations.
- AverageC;C 96% C;G 4%
- European ancestry (Utah)C;C 100% C;G 0%
- Han Chinese (Beijing)C;C 100% C;G 0%
- Japanese (Tokyo)C;C 100% C;G 0%
- Yoruba (Nigeria)C;C 84% C;G 16%
Related
Conditions, medicines and genes
Other PMEL SNPs
- rs142410496A;GPossible mutation leading to pigment dispersion syndrome and pigmentary glaucomaVery important
- rs148258956A;CPossible mutation leading to pigment dispersion syndrome and pigmentary glaucomaVery important
- rs748713829C;TPossible mutation leading to pigment dispersion syndrome and pigmentary glaucomaVery important
- rs756974126A;GPossible mutation leading to pigment dispersion syndrome and pigmentary glaucomaVery important
- rs765828110A;GPossible mutation leading to pigment dispersion syndrome and pigmentary glaucomaVery important
- rs770516374C;GPossible mutation leading to pigment dispersion syndrome and pigmentary glaucomaVery important
- rs773241850C;TPossible mutation leading to pigment dispersion syndrome and pigmentary glaucomaVery important
Notes
From SNPedia
Notes
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.
C;G
see text at main rs-page
Source and license
Adapted from rs17118154 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.
SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.