rs11555217
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 rs11555217(A;A) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 71441401 |
| Gene | DHCR7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs11555217 |
| dbSNP (classic) | rs11555217 |
| ClinGen | rs11555217 |
| ebi | rs11555217 |
| HLI | rs11555217 |
| Exac | rs11555217 |
| Gnomad | rs11555217 |
| Varsome | rs11555217 |
| LitVar | rs11555217 |
| Map | rs11555217 |
| PheGenI | rs11555217 |
| Biobank | rs11555217 |
| 1000 genomes | rs11555217 |
| hgdp | rs11555217 |
| ensembl | rs11555217 |
| geneview | rs11555217 |
| scholar | rs11555217 |
| rs11555217 | |
| pharmgkb | rs11555217 |
| gwascentral | rs11555217 |
| openSNP | rs11555217 |
| 23andMe | rs11555217 |
| SNPshot | rs11555217 |
| SNPdbe | rs11555217 |
| MSV3d | rs11555217 |
| GWAS Ctlg | rs11555217 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs11555217(A;A) rs11555217(C;C) |
| Alt | rs11555217(A;A) rs11555217(C;C) |
| Reference | Rs11555217(G;G) |
| Significance | Other |
| Disease | Smith-Lemli-Opitz syndrome not provided 2-3 toe syndactyly Congenital microcephaly Elevated 7-dehydrocholesterol Small for gestational age |
| Variation | info |
| Gene | DHCR7 |
| CLNDBN | Smith-Lemli-Opitz syndrome not provided 2-3 toe syndactyly Congenital microcephaly Elevated 7-dehydrocholesterol Small for gestational age |
| Reversed | 1 |
| HGVS | NC_000011.9:g.71152447C>T |
| CLNSRC | HGMD |
| CLNACC | RCV000020436.7, RCV000079655.4, RCV000414879.1, |
[PMID 10677299
] Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome.
[PMID 11078571] Homozygosity for the W151X stop mutation in the delta7-sterol reductase gene (DHCR7) causing a lethal form of Smith-Lemli-Opitz syndrome: retrospective molecular diagnosis.
[PMID 11175299] Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
[PMID 15521979] DHCR7 mutations and genotype-phenotype correlation in 37 Polish patients with Smith-Lemli-Opitz syndrome.
[PMID 17965227] Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
