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rs74315341

From SNPedia

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


Make rs74315341(A;A)
ReferenceGRCh38 38.1/141
Chromosome1
Position171636686
GeneMYOC
is asnp
is mentioned by
dbSNPrs74315341
dbSNP (classic)rs74315341
ClinGenrs74315341
ebirs74315341
HLIrs74315341
Exacrs74315341
Gnomadrs74315341
Varsomers74315341
LitVarrs74315341
Maprs74315341
PheGenIrs74315341
Biobankrs74315341
1000 genomesrs74315341
hgdprs74315341
ensemblrs74315341
geneviewrs74315341
scholarrs74315341
googlers74315341
pharmgkbrs74315341
gwascentralrs74315341
openSNPrs74315341
23andMers74315341
SNPshotrs74315341
SNPdbers74315341
MSV3drs74315341
GWAS Ctlgrs74315341
Max Magnitude4.8
OMIM601652
Desc
Variant0016
Relatedalso
ClinVar
Risk rs74315341(A;A)
Alt rs74315341(A;A)
Reference Rs74315341(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.171605826C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008424.2,