rs36015759
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs36015759(A;A) |
| Make rs36015759(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 119345569 |
| Gene | C1QTNF5, MFRP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs36015759 |
| dbSNP (classic) | rs36015759 |
| ClinGen | rs36015759 |
| ebi | rs36015759 |
| HLI | rs36015759 |
| Exac | rs36015759 |
| Gnomad | rs36015759 |
| Varsome | rs36015759 |
| LitVar | rs36015759 |
| Map | rs36015759 |
| PheGenI | rs36015759 |
| Biobank | rs36015759 |
| 1000 genomes | rs36015759 |
| hgdp | rs36015759 |
| ensembl | rs36015759 |
| geneview | rs36015759 |
| scholar | rs36015759 |
| rs36015759 | |
| pharmgkb | rs36015759 |
| gwascentral | rs36015759 |
| openSNP | rs36015759 |
| 23andMe | rs36015759 |
| SNPshot | rs36015759 |
| SNPdbe | rs36015759 |
| MSV3d | rs36015759 |
| GWAS Ctlg | rs36015759 |
| GMAF | 0.2034 |
| Max Magnitude | 0 |
[PMID 22933837
] A cross-ethnicity investigation of genes previously implicated in primary angle closure glaucoma
[PMID 18334955
] Common MFRP sequence variants are not associated with moderate to high hyperopia, isolated microphthalmia, and high myopia.
[PMID 18648522
] Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.
[PMID 18781223
] The association of membrane frizzled-related protein (MFRP) gene with acute angle-closure glaucoma--a pilot study.
[PMID 19169412
] Evaluation of MFRP as a candidate gene for high hyperopia.
| ClinVar | |
|---|---|
| Risk | rs36015759(A;A) rs36015759(T;T) |
| Alt | rs36015759(A;A) rs36015759(T;T) |
| Reference | Rs36015759(G;G) |
| Significance | Probable-non-pathogenic |
| Disease | not provided not specified Microphthalmia Retinal degeneration |
| Variation | info |
| Gene | MFRP C1QTNF5 |
| CLNDBN | not provided not specified Microphthalmia, isolated 6 Retinal degeneration |
| Reversed | 0 |
| HGVS | NC_000011.9:g.119216279G>A |
| CLNSRC | ClinVar |
| CLNACC | RCV000132684.1, RCV000153497.3, RCV000267889.1, RCV000381081.1, |
[PMID 30348125
] Association of Genes implicated in primary angle-closure Glaucoma and the ocular biometric parameters of anterior chamber depth and axial length in a northern Chinese population.
