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rs28936694

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
(G;T) 4.8 Primary open-angle glaucoma
Make rs28936694(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position171636244
GeneMYOC
is asnp
is mentioned by
dbSNPrs28936694
dbSNP (classic)rs28936694
ClinGenrs28936694
ebirs28936694
HLIrs28936694
Exacrs28936694
Gnomadrs28936694
Varsomers28936694
LitVarrs28936694
Maprs28936694
PheGenIrs28936694
Biobankrs28936694
1000 genomesrs28936694
hgdprs28936694
ensemblrs28936694
geneviewrs28936694
scholarrs28936694
googlers28936694
pharmgkbrs28936694
gwascentralrs28936694
openSNPrs28936694
23andMers28936694
SNPshotrs28936694
SNPdbers28936694
MSV3drs28936694
GWAS Ctlgrs28936694
Max Magnitude4.8
OMIM601652
DescGLAUCOMA 1, OPEN ANGLE, A, DIGENIC
Variant0013
Relatedalso


ClinVar
Risk rs28936694(T;T)
Alt rs28936694(T;T)
Reference Rs28936694(G;G)
Significance Pathogenic
Disease Glaucoma 1
Variation info
Gene MYOC
CLNDBN Glaucoma 1, open angle, a, digenic
Reversed 1
HGVS NC_000001.10:g.171605384C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008420.2,