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rs765828110

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 rs765828110(G;G)
ReferenceGRCh38.p7 38.3/151
Chromosome12
Position55954295
GeneDGKA, PMEL
is asnp
is mentioned by
dbSNPrs765828110
dbSNP (classic)rs765828110
ClinGenrs765828110
ebirs765828110
HLIrs765828110
Exacrs765828110
Gnomadrs765828110
Varsomers765828110
LitVarrs765828110
Maprs765828110
PheGenIrs765828110
Biobankrs765828110
1000 genomesrs765828110
hgdprs765828110
ensemblrs765828110
geneviewrs765828110
scholarrs765828110
googlers765828110
pharmgkbrs765828110
gwascentralrs765828110
openSNPrs765828110
23andMers765828110
23andMe allrs765828110
SNPshotrs765828110
SNPdbers765828110
MSV3drs765828110
GWAS Ctlgrs765828110
Max Magnitude5.5

aka c.1926T>C (p.Ser641_642del)

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]