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rs121909193

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 4.8 Primary open-angle glaucoma
Make rs121909193(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position171636349
GeneMYOC
is asnp
is mentioned by
dbSNPrs121909193
dbSNP (classic)rs121909193
ClinGenrs121909193
ebirs121909193
HLIrs121909193
Exacrs121909193
Gnomadrs121909193
Varsomers121909193
LitVarrs121909193
Maprs121909193
PheGenIrs121909193
Biobankrs121909193
1000 genomesrs121909193
hgdprs121909193
ensemblrs121909193
geneviewrs121909193
scholarrs121909193
googlers121909193
pharmgkbrs121909193
gwascentralrs121909193
openSNPrs121909193
23andMers121909193
SNPshotrs121909193
SNPdbers121909193
MSV3drs121909193
GWAS Ctlgrs121909193
Max Magnitude4.8
OMIM601652
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121909193(T;T)
Alt rs121909193(T;T)
Reference Rs121909193(G;G)
Significance Pathogenic
Disease Primary open angle glaucoma juvenile onset 1
Variation info
Gene MYOC
CLNDBN Primary open angle glaucoma juvenile onset 1
Reversed 1
HGVS NC_000001.10:g.171605489C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008410.2,