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rs142410496

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common/normal
(A;G) 5.5 Possible mutation leading to pigment dispersion syndrome and pigmentary glaucoma
Make rs142410496(G;G)
ReferenceGRCh38.p7 38.3/151
Chromosome12
Position55957137
GenePMEL
is asnp
is mentioned by
dbSNPrs142410496
dbSNP (classic)rs142410496
ClinGenrs142410496
ebirs142410496
HLIrs142410496
Exacrs142410496
Gnomadrs142410496
Varsomers142410496
LitVarrs142410496
Maprs142410496
PheGenIrs142410496
Biobankrs142410496
1000 genomesrs142410496
hgdprs142410496
ensemblrs142410496
geneviewrs142410496
scholarrs142410496
googlers142410496
pharmgkbrs142410496
gwascentralrs142410496
openSNPrs142410496
23andMers142410496
23andMe allrs142410496
SNPshotrs142410496
SNPdbers142410496
MSV3drs142410496
GWAS Ctlgrs142410496
Max Magnitude5.5

aka c.1166T>C (p.Leu389Pro or L389P)

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]