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rs74315334

From SNPedia

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


Make rs74315334(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position171636341
GeneMYOC
is asnp
is mentioned by
dbSNPrs74315334
dbSNP (classic)rs74315334
ClinGenrs74315334
ebirs74315334
HLIrs74315334
Exacrs74315334
Gnomadrs74315334
Varsomers74315334
LitVarrs74315334
Maprs74315334
PheGenIrs74315334
Biobankrs74315334
1000 genomesrs74315334
hgdprs74315334
ensemblrs74315334
geneviewrs74315334
scholarrs74315334
googlers74315334
pharmgkbrs74315334
gwascentralrs74315334
openSNPrs74315334
23andMers74315334
SNPshotrs74315334
SNPdbers74315334
MSV3drs74315334
GWAS Ctlgrs74315334
Max Magnitude4.8
OMIM601652
Desc
Variant0008
Relatedalso
ClinVar
Risk rs74315334(A;A)
Alt rs74315334(A;A)
Reference Rs74315334(G;G)
Significance Pathogenic
Disease Primary open angle glaucoma juvenile onset 1 not provided
Variation info
Gene MYOC
CLNDBN Primary open angle glaucoma juvenile onset 1 not provided
Reversed 1
HGVS NC_000001.10:g.171605481C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008415.2, RCV000255116.1,