rs863223316
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs863223316(-;T) |
| Make rs863223316(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 3 |
| Position | 155853383 |
| Gene | LOC105374174, SLC33A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs863223316 |
| dbSNP (classic) | rs863223316 |
| ClinGen | rs863223316 |
| ebi | rs863223316 |
| HLI | rs863223316 |
| Exac | rs863223316 |
| Gnomad | rs863223316 |
| Varsome | rs863223316 |
| LitVar | rs863223316 |
| Map | rs863223316 |
| PheGenI | rs863223316 |
| Biobank | rs863223316 |
| 1000 genomes | rs863223316 |
| hgdp | rs863223316 |
| ensembl | rs863223316 |
| geneview | rs863223316 |
| scholar | rs863223316 |
| rs863223316 | |
| pharmgkb | rs863223316 |
| gwascentral | rs863223316 |
| openSNP | rs863223316 |
| 23andMe | rs863223316 |
| SNPshot | rs863223316 |
| SNPdbe | rs863223316 |
| MSV3d | rs863223316 |
| GWAS Ctlg | rs863223316 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs863223316(T;T) |
| Alt | rs863223316(T;T) |
| Reference | Rs863223316(-;-) |
| Significance | Pathogenic |
| Disease | Congenital cataracts |
| Variation | info |
| Gene | SLC33A1 |
| CLNDBN | Congenital cataracts, hearing loss, and neurodegeneration |
| Reversed | 1 |
| HGVS | NC_000003.11:g.155571173dupA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000023326.4, |
