rs74315329
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 4.8 | Primary open-angle glaucoma |
| Make rs74315329(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 1 |
| Position | 171636338 |
| Gene | MYOC |
| is a | snp |
| is | mentioned by |
| dbSNP | rs74315329 |
| dbSNP (classic) | rs74315329 |
| ClinGen | rs74315329 |
| ebi | rs74315329 |
| HLI | rs74315329 |
| Exac | rs74315329 |
| Gnomad | rs74315329 |
| Varsome | rs74315329 |
| LitVar | rs74315329 |
| Map | rs74315329 |
| PheGenI | rs74315329 |
| Biobank | rs74315329 |
| 1000 genomes | rs74315329 |
| hgdp | rs74315329 |
| ensembl | rs74315329 |
| geneview | rs74315329 |
| scholar | rs74315329 |
| rs74315329 | |
| pharmgkb | rs74315329 |
| gwascentral | rs74315329 |
| openSNP | rs74315329 |
| 23andMe | rs74315329 |
| SNPshot | rs74315329 |
| SNPdbe | rs74315329 |
| MSV3d | rs74315329 |
| GWAS Ctlg | rs74315329 |
| GMAF | 0.0009183 |
| Max Magnitude | 4.8 |
rs74315329, also known as Q168X and Gln368Ter, is a nonsense mutation in the MYOC gene on chromosome 1. 23andMe name: i5007108
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 26046366
]
The penetrance of the variant varies in different scenarios.[PMID 30267046]
A polygenic risk score influencing the likelihood of glaucoma progression in Q168X carriers (and possibly others) was published in 2020.[PMID 31959993]
| ClinVar | |
|---|---|
| Risk | rs74315329(T;T) |
| Alt | rs74315329(T;T) |
| Reference | Rs74315329(C;C) |
| Significance | Pathogenic |
| Disease | Primary open angle glaucoma juvenile onset 1 Primary open angle glaucoma |
| Variation | info |
| Gene | MYOC |
| CLNDBN | Primary open angle glaucoma juvenile onset 1 Primary open angle glaucoma |
| Reversed | 1 |
| HGVS | NC_000001.10:g.171605478G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000008412.2, RCV000369379.1, |
