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rs748713829

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
(C;T) 5.5 Possible mutation leading to pigment dispersion syndrome and pigmentary glaucoma
Make rs748713829(T;T)
ReferenceGRCh38.p7 38.3/151
Chromosome12
Position55957309
GenePMEL
is asnp
is mentioned by
dbSNPrs748713829
dbSNP (classic)rs748713829
ClinGenrs748713829
ebirs748713829
HLIrs748713829
Exacrs748713829
Gnomadrs748713829
Varsomers748713829
LitVarrs748713829
Maprs748713829
PheGenIrs748713829
Biobankrs748713829
1000 genomesrs748713829
hgdprs748713829
ensemblrs748713829
geneviewrs748713829
scholarrs748713829
googlers748713829
pharmgkbrs748713829
gwascentralrs748713829
openSNPrs748713829
23andMers748713829
23andMe allrs748713829
SNPshotrs748713829
SNPdbers748713829
MSV3drs748713829
GWAS Ctlgrs748713829
Max Magnitude5.5

aka c.994G>A (p.Val332Ile or V332I)

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]