rs373306653
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs373306653(A;G) |
| Make rs373306653(G;G) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 11 |
| Position | 71435665 |
| Gene | DHCR7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs373306653 |
| dbSNP (classic) | rs373306653 |
| ClinGen | rs373306653 |
| ebi | rs373306653 |
| HLI | rs373306653 |
| Exac | rs373306653 |
| Gnomad | rs373306653 |
| Varsome | rs373306653 |
| LitVar | rs373306653 |
| Map | rs373306653 |
| PheGenI | rs373306653 |
| Biobank | rs373306653 |
| 1000 genomes | rs373306653 |
| hgdp | rs373306653 |
| ensembl | rs373306653 |
| geneview | rs373306653 |
| scholar | rs373306653 |
| rs373306653 | |
| pharmgkb | rs373306653 |
| gwascentral | rs373306653 |
| openSNP | rs373306653 |
| 23andMe | rs373306653 |
| SNPshot | rs373306653 |
| SNPdbe | rs373306653 |
| MSV3d | rs373306653 |
| GWAS Ctlg | rs373306653 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs373306653(G;G) |
| Alt | rs373306653(G;G) |
| Reference | Rs373306653(A;A) |
| Significance | Probable-Pathogenic |
| Disease | Smith-Lemli-Opitz syndrome |
| Variation | info |
| Gene | DHCR7 |
| CLNDBN | Smith-Lemli-Opitz syndrome |
| Reversed | 0 |
| HGVS | NC_000011.9:g.71146711A>G |
| CLNSRC | |
| CLNACC | RCV000408382.1, |
