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rs121909194

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 4.8 Primary open-angle glaucoma
(G;G) 0 common in clinvar


Make rs121909194(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position171636302
GeneMYOC
is asnp
is mentioned by
dbSNPrs121909194
dbSNP (old)rs121909194
ClinGenrs121909194
ebirs121909194
HLIrs121909194
Exacrs121909194
Varsomers121909194
Maprs121909194
PheGenIrs121909194
Biobankrs121909194
1000 genomesrs121909194
hgdprs121909194
ensemblrs121909194
gopubmedrs121909194
geneviewrs121909194
scholarrs121909194
googlers121909194
pharmgkbrs121909194
gwascentralrs121909194
openSNPrs121909194
23andMers121909194
23andMe allrs121909194
SNP Nexus

SNPshotrs121909194
SNPdbers121909194
MSV3drs121909194
GWAS Ctlgrs121909194
Max Magnitude4.8

c.1138G>C (p.Asp380His)

23andMe name: i5007120

ClinVar
Risk rs121909194(C;C)
Alt rs121909194(C;C)
Reference Rs121909194(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.171605442C>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008425.2,