rs368482584
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs368482584(C;T) |
| Make rs368482584(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 150557296 |
| Gene | ADAMTSL4, LOC100289061 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs368482584 |
| dbSNP (classic) | rs368482584 |
| ClinGen | rs368482584 |
| ebi | rs368482584 |
| HLI | rs368482584 |
| Exac | rs368482584 |
| Gnomad | rs368482584 |
| Varsome | rs368482584 |
| LitVar | rs368482584 |
| Map | rs368482584 |
| PheGenI | rs368482584 |
| Biobank | rs368482584 |
| 1000 genomes | rs368482584 |
| hgdp | rs368482584 |
| ensembl | rs368482584 |
| geneview | rs368482584 |
| scholar | rs368482584 |
| rs368482584 | |
| pharmgkb | rs368482584 |
| gwascentral | rs368482584 |
| openSNP | rs368482584 |
| 23andMe | rs368482584 |
| SNPshot | rs368482584 |
| SNPdbe | rs368482584 |
| MSV3d | rs368482584 |
| GWAS Ctlg | rs368482584 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs368482584(T;T) |
| Alt | rs368482584(T;T) |
| Reference | Rs368482584(C;C) |
| Significance | Pathogenic |
| Disease | Ectopia lentis |
| Variation | info |
| Gene | ADAMTSL4 |
| CLNDBN | Ectopia lentis, isolated autosomal recessive |
| Reversed | 0 |
| HGVS | NC_000001.10:g.150529772C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000032757.2, |
