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rs148258956

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;C) 5.5 Possible mutation leading to pigment dispersion syndrome and pigmentary glaucoma
(C;C) 0 common/normal


Make rs148258956(A;A)
ReferenceGRCh38.p7 38.3/151
Chromosome12
Position55957329
GenePMEL
is asnp
is mentioned by
dbSNPrs148258956
dbSNP (classic)rs148258956
ClinGenrs148258956
ebirs148258956
HLIrs148258956
Exacrs148258956
Gnomadrs148258956
Varsomers148258956
LitVarrs148258956
Maprs148258956
PheGenIrs148258956
Biobankrs148258956
1000 genomesrs148258956
hgdprs148258956
ensemblrs148258956
geneviewrs148258956
scholarrs148258956
googlers148258956
pharmgkbrs148258956
gwascentralrs148258956
openSNPrs148258956
23andMers148258956
23andMe allrs148258956
SNPshotrs148258956
SNPdbers148258956
MSV3drs148258956
GWAS Ctlgrs148258956
Max Magnitude5.5

aka c.974G>T (p.Gly325Val or G325V)

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]