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rs773241850

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common/normal


Make rs773241850(C;C)
ReferenceGRCh38.p7 38.3/151
Chromosome12
Position55961319
GenePMEL
is asnp
is mentioned by
dbSNPrs773241850
dbSNP (classic)rs773241850
ClinGenrs773241850
ebirs773241850
HLIrs773241850
Exacrs773241850
Gnomadrs773241850
Varsomers773241850
LitVarrs773241850
Maprs773241850
PheGenIrs773241850
Biobankrs773241850
1000 genomesrs773241850
hgdprs773241850
ensemblrs773241850
geneviewrs773241850
scholarrs773241850
googlers773241850
pharmgkbrs773241850
gwascentralrs773241850
openSNPrs773241850
23andMers773241850
23andMe allrs773241850
SNPshotrs773241850
SNPdbers773241850
MSV3drs773241850
GWAS Ctlgrs773241850
Max Magnitude0

aka c.332A>G (p.Asn111Ser or N111S)

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]