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rs28939689

From SNPedia

Merged intors75654767
Orientationplus
Stabilizedplus
Make rs28939689(A;A)
Make rs28939689(A;G)
Make rs28939689(G;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position13136766
GeneOPTN
is asnp
is mentioned by
dbSNPrs28939689
ebirs28939689
HLIrs28939689
Exacrs28939689
Varsomers28939689
Maprs28939689
PheGenIrs28939689
hapmaprs28939689
1000 genomesrs28939689
hgdprs28939689
ensemblrs28939689
gopubmedrs28939689
geneviewrs28939689
scholarrs28939689
googlers28939689
pharmgkbrs28939689
gwascentralrs28939689
openSNPrs28939689
23andMers28939689
23andMe allrs28939689
SNP Nexus

SNPshotrs28939689
SNPdbers28939689
MSV3drs28939689
GWAS Ctlgrs28939689
StatusMerged into rs75654767
Max Magnitude
OMIM602432
DescGLAUCOMA 1, OPEN ANGLE, E
Variant0003
Relatedalso


GET Evidence
OPTN-R545Q
aa_change Arg545Gln
aa_change_short R545Q
impact benign
qualified_impact Low clinical importance, Uncertain benign
overall_frequency 0.000278914
summary Originally, the variant was believed to be associated with adult-onset primary open angle glaucoma (POAG) and normal tension glaucoma (NTG) after it was found in three individuals in a 2002 study. An additional study in 2005 observed the variant in 6 POAG patients. Further investigation, however, has found the variant to be a non-disease causing polymorphism.