rs730880264
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (CCC;CCC) | 0 | common in clinvar |
| Make rs730880264(CCC;GGGCTAAAAGTACTGTTGGGG) |
| Make rs730880264(GGGCTAAAAGTACTGTTGGGG;GGGCTAAAAGTACTGTTGGGG) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 17 |
| Position | 19663333 |
| Gene | ALDH3A2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs730880264 |
| dbSNP (classic) | rs730880264 |
| ClinGen | rs730880264 |
| ebi | rs730880264 |
| HLI | rs730880264 |
| Exac | rs730880264 |
| Gnomad | rs730880264 |
| Varsome | rs730880264 |
| LitVar | rs730880264 |
| Map | rs730880264 |
| PheGenI | rs730880264 |
| Biobank | rs730880264 |
| 1000 genomes | rs730880264 |
| hgdp | rs730880264 |
| ensembl | rs730880264 |
| geneview | rs730880264 |
| scholar | rs730880264 |
| rs730880264 | |
| pharmgkb | rs730880264 |
| gwascentral | rs730880264 |
| openSNP | rs730880264 |
| 23andMe | rs730880264 |
| SNPshot | rs730880264 |
| SNPdbe | rs730880264 |
| MSV3d | rs730880264 |
| GWAS Ctlg | rs730880264 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs730880264(GGGCTAAAAGTACTGTTGGGG;GGGCTAAAAGTACTGTTGGGG) |
| Alt | rs730880264(GGGCTAAAAGTACTGTTGGGG;GGGCTAAAAGTACTGTTGGGG) |
| Reference | Rs730880264(CCC;CCC) |
| Significance | Pathogenic |
| Disease | Sjögren-Larsson syndrome |
| Variation | info |
| Gene | ALDH3A2 |
| CLNDBN | Sjögren-Larsson syndrome |
| Reversed | 0 |
| HGVS | NC_000017.10:g.19566646_19566648delCCCinsGGGCTAAAAGTACTGTTGGGG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000001705.3, |
