rs80338853
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Unaffected carrier of a Smith-Lemli-Opitz syndrome mutation |
| Make rs80338853(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 71444036 |
| Gene | DHCR7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338853 |
| dbSNP (classic) | rs80338853 |
| ClinGen | rs80338853 |
| ebi | rs80338853 |
| HLI | rs80338853 |
| Exac | rs80338853 |
| Gnomad | rs80338853 |
| Varsome | rs80338853 |
| LitVar | rs80338853 |
| Map | rs80338853 |
| PheGenI | rs80338853 |
| Biobank | rs80338853 |
| 1000 genomes | rs80338853 |
| hgdp | rs80338853 |
| ensembl | rs80338853 |
| geneview | rs80338853 |
| scholar | rs80338853 |
| rs80338853 | |
| pharmgkb | rs80338853 |
| gwascentral | rs80338853 |
| openSNP | rs80338853 |
| 23andMe | rs80338853 |
| SNPshot | rs80338853 |
| SNPdbe | rs80338853 |
| MSV3d | rs80338853 |
| GWAS Ctlg | rs80338853 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs80338853(T;T) |
| Alt | rs80338853(T;T) |
| Reference | Rs80338853(C;C) |
| Significance | Pathogenic |
| Disease | Smith-Lemli-Opitz syndrome not provided Abnormality of brain morphology |
| Variation | info |
| Gene | DHCR7 |
| CLNDBN | Smith-Lemli-Opitz syndrome not provided Abnormality of brain morphology |
| Reversed | 1 |
| HGVS | NC_000011.9:g.71155082G>A |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000007185.4, RCV000079651.4, RCV000454251.1, |
[PMID 162072] Physiotherapy in certain aspects of psychosomatic medicine.
[PMID 9653161
] Mutations in the Delta7-sterol reductase gene in patients with the Smith-Lemli-Opitz syndrome.
[PMID 10602371] Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations.
[PMID 11175299] Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations.
[PMID 15952211] DHCR7 mutations in Brazilian Smith-Lemli-Opitz syndrome patients.
[PMID 17965227] Age and origin of major Smith-Lemli-Opitz syndrome (SLOS) mutations in European populations.
