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rs74315331

From SNPedia

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


Make rs74315331(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position171636010
GeneMYOC
is asnp
is mentioned by
dbSNPrs74315331
dbSNP (classic)rs74315331
ClinGenrs74315331
ebirs74315331
HLIrs74315331
Exacrs74315331
Gnomadrs74315331
Varsomers74315331
LitVarrs74315331
Maprs74315331
PheGenIrs74315331
Biobankrs74315331
1000 genomesrs74315331
hgdprs74315331
ensemblrs74315331
geneviewrs74315331
scholarrs74315331
googlers74315331
pharmgkbrs74315331
gwascentralrs74315331
openSNPrs74315331
23andMers74315331
SNPshotrs74315331
SNPdbers74315331
MSV3drs74315331
GWAS Ctlgrs74315331
Max Magnitude4.8
OMIM601652
Desc
Variant0005
Relatedalso
OMIM601652
Desc
Variant0017
Relatedalso
ClinVar
Risk rs74315331(A;A) rs74315331(G;G)
Alt rs74315331(A;A) rs74315331(G;G)
Reference Rs74315331(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.171605150A>C; NC_000001.10:g.171605150A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000008413.2, RCV000023126.3,