rs794726689
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs794726689(-;-) |
| Make rs794726689(-;C) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 150553058 |
| Gene | ADAMTSL4, LOC100289061 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs794726689 |
| dbSNP (classic) | rs794726689 |
| ClinGen | rs794726689 |
| ebi | rs794726689 |
| HLI | rs794726689 |
| Exac | rs794726689 |
| Gnomad | rs794726689 |
| Varsome | rs794726689 |
| LitVar | rs794726689 |
| Map | rs794726689 |
| PheGenI | rs794726689 |
| Biobank | rs794726689 |
| 1000 genomes | rs794726689 |
| hgdp | rs794726689 |
| ensembl | rs794726689 |
| geneview | rs794726689 |
| scholar | rs794726689 |
| rs794726689 | |
| pharmgkb | rs794726689 |
| gwascentral | rs794726689 |
| openSNP | rs794726689 |
| 23andMe | rs794726689 |
| SNPshot | rs794726689 |
| SNPdbe | rs794726689 |
| MSV3d | rs794726689 |
| GWAS Ctlg | rs794726689 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs794726689(-;-) |
| Alt | rs794726689(-;-) |
| Reference | Rs794726689(C;C) |
| Significance | Pathogenic |
| Disease | Ectopia lentis |
| Variation | info |
| Gene | LOC100289061 ADAMTSL4 |
| CLNDBN | Ectopia lentis, isolated autosomal recessive |
| Reversed | 0 |
| HGVS | NC_000001.10:g.150525534delC |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000032758.4, |
