rs774291653
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (I;I) | 0 | common genotype |
| Make rs774291653(-;-) |
| Make rs774291653(-;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 11 |
| Position | 71435737 |
| Gene | DHCR7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs774291653 |
| dbSNP (classic) | rs774291653 |
| ClinGen | rs774291653 |
| ebi | rs774291653 |
| HLI | rs774291653 |
| Exac | rs774291653 |
| Gnomad | rs774291653 |
| Varsome | rs774291653 |
| LitVar | rs774291653 |
| Map | rs774291653 |
| PheGenI | rs774291653 |
| Biobank | rs774291653 |
| 1000 genomes | rs774291653 |
| hgdp | rs774291653 |
| ensembl | rs774291653 |
| geneview | rs774291653 |
| scholar | rs774291653 |
| rs774291653 | |
| pharmgkb | rs774291653 |
| gwascentral | rs774291653 |
| openSNP | rs774291653 |
| 23andMe | rs774291653 |
| SNPshot | rs774291653 |
| SNPdbe | rs774291653 |
| MSV3d | rs774291653 |
| GWAS Ctlg | rs774291653 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs774291653(-;-) |
| Alt | rs774291653(-;-) |
| Reference | Rs774291653(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Smith-Lemli-Opitz syndrome |
| Variation | info |
| Gene | DHCR7 |
| CLNDBN | Smith-Lemli-Opitz syndrome |
| Reversed | 0 |
| HGVS | NC_000011.9:g.71146783delG |
| CLNSRC | |
| CLNACC | RCV000409736.1, |
