rs1788799
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1788799(C;G) |
| Make rs1788799(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 23544981 |
| Gene | NPC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1788799 |
| dbSNP (classic) | rs1788799 |
| ClinGen | rs1788799 |
| ebi | rs1788799 |
| HLI | rs1788799 |
| Exac | rs1788799 |
| Gnomad | rs1788799 |
| Varsome | rs1788799 |
| LitVar | rs1788799 |
| Map | rs1788799 |
| PheGenI | rs1788799 |
| Biobank | rs1788799 |
| 1000 genomes | rs1788799 |
| hgdp | rs1788799 |
| ensembl | rs1788799 |
| geneview | rs1788799 |
| scholar | rs1788799 |
| rs1788799 | |
| pharmgkb | rs1788799 |
| gwascentral | rs1788799 |
| openSNP | rs1788799 |
| 23andMe | rs1788799 |
| SNPshot | rs1788799 |
| SNPdbe | rs1788799 |
| MSV3d | rs1788799 |
| GWAS Ctlg | rs1788799 |
| GMAF | 0.1809 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs1788799(G;G) |
| Alt | rs1788799(G;G) |
| Reference | Rs1788799(C;C) |
| Significance | Other |
| Disease | Niemann-Pick disease type C1 not specified Niemann-Pick disease |
| Variation | info |
| Gene | NPC1 |
| CLNDBN | Niemann-Pick disease type C1 not specified Niemann-Pick disease, type C |
| Reversed | 0 |
| HGVS | NC_000018.9:g.21124945C\x3d; NC_000018.9:g.21124945C>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000020225.2, RCV000078467.9, RCV000348137.1, |
[PMID 18834923
] Variation in NPC1, the gene encoding Niemann-Pick C1, a protein involved in intracellular cholesterol transport, is associated with Alzheimer disease and/or aging in the Polish population.
[PMID 23153210] Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes
