rs7255721
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs7255721(C;C) |
| Make rs7255721(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 8605046 |
| Gene | ADAMTS10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs7255721 |
| dbSNP (classic) | rs7255721 |
| ClinGen | rs7255721 |
| ebi | rs7255721 |
| HLI | rs7255721 |
| Exac | rs7255721 |
| Gnomad | rs7255721 |
| Varsome | rs7255721 |
| LitVar | rs7255721 |
| Map | rs7255721 |
| PheGenI | rs7255721 |
| Biobank | rs7255721 |
| 1000 genomes | rs7255721 |
| hgdp | rs7255721 |
| ensembl | rs7255721 |
| geneview | rs7255721 |
| scholar | rs7255721 |
| rs7255721 | |
| pharmgkb | rs7255721 |
| gwascentral | rs7255721 |
| openSNP | rs7255721 |
| 23andMe | rs7255721 |
| SNPshot | rs7255721 |
| SNPdbe | rs7255721 |
| MSV3d | rs7255721 |
| GWAS Ctlg | rs7255721 |
| GMAF | 0.1478 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 19836009
] Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature.
| ClinVar | |
|---|---|
| Risk | rs7255721(C;C) |
| Alt | rs7255721(C;C) |
| Reference | Rs7255721(G;G) |
| Significance | Non-pathogenic |
| Disease | Weill-Marchesani syndrome |
| Variation | info |
| Gene | ADAMTS10 |
| CLNDBN | Weill-Marchesani syndrome |
| Reversed | 0 |
| HGVS | NC_000019.9:g.8669931G>C |
| CLNSRC | |
| CLNACC | RCV000374892.1, |
