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rs28939688

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs28939688(A;A)
Make rs28939688(A;G)
ReferenceGRCh38 38.1/141
Chromosome10
Position13109270
GeneOPTN
is asnp
is mentioned by
dbSNPrs28939688
ebirs28939688
HLIrs28939688
Exacrs28939688
Varsomers28939688
Maprs28939688
PheGenIrs28939688
hapmaprs28939688
1000 genomesrs28939688
hgdprs28939688
ensemblrs28939688
gopubmedrs28939688
geneviewrs28939688
scholarrs28939688
googlers28939688
pharmgkbrs28939688
gwascentralrs28939688
openSNPrs28939688
23andMers28939688
23andMe allrs28939688
SNP Nexus

SNPshotrs28939688
SNPdbers28939688
MSV3drs28939688
GWAS Ctlgrs28939688
Max Magnitude0
OMIM602432
DescGLAUCOMA 1, OPEN ANGLE, E
Variant0001
Relatedalso


ClinVar
Risk rs28939688(A;A)
Alt rs28939688(A;A)
Reference rs28939688(G;G)
Significance Pathogenic
Disease Glaucoma 1
Variation info
Gene OPTN
CLNDBN Glaucoma 1, open angle, e
Reversed 0
HGVS NC_000010.10:g.13151270G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000007513.2,