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rs74315332

From SNPedia

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


Make rs74315332(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position171636000
GeneMYOC
is asnp
is mentioned by
dbSNPrs74315332
dbSNP (classic)rs74315332
ClinGenrs74315332
ebirs74315332
HLIrs74315332
Exacrs74315332
Gnomadrs74315332
Varsomers74315332
LitVarrs74315332
Maprs74315332
PheGenIrs74315332
Biobankrs74315332
1000 genomesrs74315332
hgdprs74315332
ensemblrs74315332
geneviewrs74315332
scholarrs74315332
googlers74315332
pharmgkbrs74315332
gwascentralrs74315332
openSNPrs74315332
23andMers74315332
SNPshotrs74315332
SNPdbers74315332
MSV3drs74315332
GWAS Ctlgrs74315332
Max Magnitude4.8
OMIM601652
Desc
Variant0006
Relatedalso
ClinVar
Risk rs74315332(A;A)
Alt rs74315332(A;A)
Reference Rs74315332(C;C)
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.171605140G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008414.2,