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rs74315329

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315329(C;T)
Make rs74315329(T;T)
ReferenceGRCh38 38.1/142
Chromosome1
Position171636338
GeneMYOC
is asnp
is mentioned by
dbSNPrs74315329
ebirs74315329
HLIrs74315329
Exacrs74315329
Varsomers74315329
Maprs74315329
PheGenIrs74315329
hapmaprs74315329
1000 genomesrs74315329
hgdprs74315329
ensemblrs74315329
gopubmedrs74315329
geneviewrs74315329
scholarrs74315329
googlers74315329
pharmgkbrs74315329
gwascentralrs74315329
openSNPrs74315329
23andMers74315329
23andMe allrs74315329
SNP Nexus

SNPshotrs74315329
SNPdbers74315329
MSV3drs74315329
GWAS Ctlgrs74315329
GMAF0.0009183
Max Magnitude0

rs74315329, also known as Q168X and Gln368Ter, is a nonsense mutation in the MYOC gene on chromosome 1.

The rs74315329(T) allele (in dbSNP orientation) has been reported to be a pathogenic autosomal dominant mutation leading to primary open angle glaucoma with either early-onset or juvenile onset.ClinVar

However, other reports indicate that inheritance does not follow a simple dominant model ([PMID 11535458]), and full sequencing has incidentally uncovered several adults who harbor this mutation yet who lack a significant family history and also do not show show signs of glaucoma, at least at the time of examination.[PMID 26046366OA-icon.png]

OMIM601652
Desc
Variant0003
Relatedalso
ClinVar
Risk rs74315329(T;T)
Alt rs74315329(T;T)
Reference rs74315329(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.171605478G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000008412.2,