rs718265
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (G;G) |
| Make rs718265(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 54854229 |
| Gene | DHCR24 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs718265 |
| dbSNP (classic) | rs718265 |
| ClinGen | rs718265 |
| ebi | rs718265 |
| HLI | rs718265 |
| Exac | rs718265 |
| Gnomad | rs718265 |
| Varsome | rs718265 |
| LitVar | rs718265 |
| Map | rs718265 |
| PheGenI | rs718265 |
| Biobank | rs718265 |
| 1000 genomes | rs718265 |
| hgdp | rs718265 |
| ensembl | rs718265 |
| geneview | rs718265 |
| scholar | rs718265 |
| rs718265 | |
| pharmgkb | rs718265 |
| gwascentral | rs718265 |
| openSNP | rs718265 |
| 23andMe | rs718265 |
| SNPshot | rs718265 |
| SNPdbe | rs718265 |
| MSV3d | rs718265 |
| GWAS Ctlg | rs718265 |
| GMAF | 0.4022 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 17510943] The association study between DHCR24 polymorphisms and Alzheimer's disease.
[PMID 17579359] Mutational screening analysis of DHCR24/seladin-1 gene in Italian familial Alzheimer's disease.
| ClinVar | |
|---|---|
| Risk | Rs718265(G;G) |
| Alt | Rs718265(G;G) |
| Reference | Rs718265(A;A) |
| Significance | Non-pathogenic |
| Disease | Desmosterolosis |
| Variation | info |
| Gene | DHCR24 |
| CLNDBN | Desmosterolosis |
| Reversed | 0 |
| HGVS | NC_000001.10:g.55319902A>G |
| CLNSRC | |
| CLNACC | RCV000263910.1, |
