rs104886038
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 3 | Unaffected carrier of a Smith-Lemli-Opitz syndrome mutation |
| (T;T) | 0 | common in clinvar |
| Make rs104886038(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 71444111 |
| Gene | DHCR7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104886038 |
| dbSNP (classic) | rs104886038 |
| ClinGen | rs104886038 |
| ebi | rs104886038 |
| HLI | rs104886038 |
| Exac | rs104886038 |
| Gnomad | rs104886038 |
| Varsome | rs104886038 |
| LitVar | rs104886038 |
| Map | rs104886038 |
| PheGenI | rs104886038 |
| Biobank | rs104886038 |
| 1000 genomes | rs104886038 |
| hgdp | rs104886038 |
| ensembl | rs104886038 |
| geneview | rs104886038 |
| scholar | rs104886038 |
| rs104886038 | |
| pharmgkb | rs104886038 |
| gwascentral | rs104886038 |
| openSNP | rs104886038 |
| 23andMe | rs104886038 |
| SNPshot | rs104886038 |
| SNPdbe | rs104886038 |
| MSV3d | rs104886038 |
| GWAS Ctlg | rs104886038 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs104886038(C;C) |
| Alt | rs104886038(C;C) |
| Reference | Rs104886038(T;T) |
| Significance | Pathogenic |
| Disease | Smith-Lemli-Opitz syndrome |
| Variation | info |
| Gene | DHCR7 |
| CLNDBN | Smith-Lemli-Opitz syndrome |
| Reversed | 1 |
| HGVS | NC_000011.9:g.71155157A>G |
| CLNSRC | |
| CLNACC | |
[PMID 15521979] DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.
