rs72551313
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs72551313(A;A) |
| Make rs72551313(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 218809755 |
| Gene | CYP27A1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs72551313 |
| dbSNP (classic) | rs72551313 |
| ClinGen | rs72551313 |
| ebi | rs72551313 |
| HLI | rs72551313 |
| Exac | rs72551313 |
| Gnomad | rs72551313 |
| Varsome | rs72551313 |
| LitVar | rs72551313 |
| Map | rs72551313 |
| PheGenI | rs72551313 |
| Biobank | rs72551313 |
| 1000 genomes | rs72551313 |
| hgdp | rs72551313 |
| ensembl | rs72551313 |
| geneview | rs72551313 |
| scholar | rs72551313 |
| rs72551313 | |
| pharmgkb | rs72551313 |
| gwascentral | rs72551313 |
| openSNP | rs72551313 |
| 23andMe | rs72551313 |
| SNPshot | rs72551313 |
| SNPdbe | rs72551313 |
| MSV3d | rs72551313 |
| GWAS Ctlg | rs72551313 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs72551313(A;A) |
| Alt | rs72551313(A;A) |
| Reference | Rs72551313(G;G) |
| Significance | Pathogenic |
| Disease | Cholestanol storage disease |
| Variation | info |
| Gene | CYP27A1 |
| CLNDBN | Cholestanol storage disease |
| Reversed | 0 |
| HGVS | NC_000002.11:g.219674478G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000004485.2, |
