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rs756974126

From SNPedia

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


Make rs756974126(A;A)
ReferenceGRCh38.p7 38.3/151
Chromosome12
Position55957284
GenePMEL
is asnp
is mentioned by
dbSNPrs756974126
dbSNP (classic)rs756974126
ClinGenrs756974126
ebirs756974126
HLIrs756974126
Exacrs756974126
Gnomadrs756974126
Varsomers756974126
LitVarrs756974126
Maprs756974126
PheGenIrs756974126
Biobankrs756974126
1000 genomesrs756974126
hgdprs756974126
ensemblrs756974126
geneviewrs756974126
scholarrs756974126
googlers756974126
pharmgkbrs756974126
gwascentralrs756974126
openSNPrs756974126
23andMers756974126
23andMe allrs756974126
SNPshotrs756974126
SNPdbers756974126
MSV3drs756974126
GWAS Ctlgrs756974126
Max Magnitude5.5

aka c.1019C>T (p.Ala340Val or A340V)

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]