Have questions? Visit https://www.reddit.com/r/SNPedia

rs17118154

From SNPedia

Orientationplus
Stabilizedplus
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)
ReferenceGRCh38.p7 38.3/151
Chromosome12
Position55957193
GenePMEL
is asnp
is mentioned by
dbSNPrs17118154
dbSNP (classic)rs17118154
ClinGenrs17118154
ebirs17118154
HLIrs17118154
Exacrs17118154
Gnomadrs17118154
Varsomers17118154
LitVarrs17118154
Maprs17118154
PheGenIrs17118154
Biobankrs17118154
1000 genomesrs17118154
hgdprs17118154
ensemblrs17118154
geneviewrs17118154
scholarrs17118154
googlers17118154
pharmgkbrs17118154
gwascentralrs17118154
openSNPrs17118154
23andMers17118154
23andMe allrs17118154
SNPshotrs17118154
SNPdbers17118154
MSV3drs17118154
GWAS Ctlgrs17118154
Max Magnitude5.5
? (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 30561643OA-icon.png]