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.