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rs74315328

From SNPedia

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


Make rs74315328(C;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position171636131
GeneMYOC
is asnp
is mentioned by
dbSNPrs74315328
dbSNP (classic)rs74315328
ClinGenrs74315328
ebirs74315328
HLIrs74315328
Exacrs74315328
Gnomadrs74315328
Varsomers74315328
LitVarrs74315328
Maprs74315328
PheGenIrs74315328
Biobankrs74315328
1000 genomesrs74315328
hgdprs74315328
ensemblrs74315328
geneviewrs74315328
scholarrs74315328
googlers74315328
pharmgkbrs74315328
gwascentralrs74315328
openSNPrs74315328
23andMers74315328
SNPshotrs74315328
SNPdbers74315328
MSV3drs74315328
GWAS Ctlgrs74315328
Max Magnitude4.8
OMIM601652
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315328(C;C)
Alt rs74315328(C;C)
Reference Rs74315328(T;T)
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.171605271A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008409.2,