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rs770516374

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 rs770516374(G;G)
ReferenceGRCh38.p7 38.3/151
Chromosome12
Position55957191
GenePMEL
is asnp
is mentioned by
dbSNPrs770516374
dbSNP (classic)rs770516374
ClinGenrs770516374
ebirs770516374
HLIrs770516374
Exacrs770516374
Gnomadrs770516374
Varsomers770516374
LitVarrs770516374
Maprs770516374
PheGenIrs770516374
Biobankrs770516374
1000 genomesrs770516374
hgdprs770516374
ensemblrs770516374
geneviewrs770516374
scholarrs770516374
googlers770516374
pharmgkbrs770516374
gwascentralrs770516374
openSNPrs770516374
23andMers770516374
23andMe allrs770516374
SNPshotrs770516374
SNPdbers770516374
MSV3drs770516374
GWAS Ctlgrs770516374
Max Magnitude5.5

aka c.1112G>C (p.Ser371Thr or S371T)

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]