rs398123607
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | Unaffected carrier of a Smith-Lemli-Opitz syndrome mutation |
| (G;G) | 0 | common in clinvar |
| Make rs398123607(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 71437934 |
| Gene | DHCR7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs398123607 |
| dbSNP (classic) | rs398123607 |
| ClinGen | rs398123607 |
| ebi | rs398123607 |
| HLI | rs398123607 |
| Exac | rs398123607 |
| Gnomad | rs398123607 |
| Varsome | rs398123607 |
| LitVar | rs398123607 |
| Map | rs398123607 |
| PheGenI | rs398123607 |
| Biobank | rs398123607 |
| 1000 genomes | rs398123607 |
| hgdp | rs398123607 |
| ensembl | rs398123607 |
| geneview | rs398123607 |
| scholar | rs398123607 |
| rs398123607 | |
| pharmgkb | rs398123607 |
| gwascentral | rs398123607 |
| openSNP | rs398123607 |
| 23andMe | rs398123607 |
| SNPshot | rs398123607 |
| SNPdbe | rs398123607 |
| MSV3d | rs398123607 |
| GWAS Ctlg | rs398123607 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs398123607(A;A) |
| Alt | rs398123607(A;A) |
| Reference | Rs398123607(G;G) |
| Significance | Pathogenic |
| Disease | not provided Smith-Lemli-Opitz syndrome |
| Variation | info |
| Gene | DHCR7 |
| CLNDBN | not provided Smith-Lemli-Opitz syndrome |
| Reversed | 1 |
| HGVS | NC_000011.9:g.71148980C>T |
| CLNSRC | HGMD UniProtKB (protein) |
| CLNACC | RCV000079660.4, RCV000180218.1, |
