rs120074131
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs120074131(C;C) |
| Make rs120074131(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 23533470 |
| Gene | NPC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs120074131 |
| dbSNP (classic) | rs120074131 |
| ClinGen | rs120074131 |
| ebi | rs120074131 |
| HLI | rs120074131 |
| Exac | rs120074131 |
| Gnomad | rs120074131 |
| Varsome | rs120074131 |
| LitVar | rs120074131 |
| Map | rs120074131 |
| PheGenI | rs120074131 |
| Biobank | rs120074131 |
| 1000 genomes | rs120074131 |
| hgdp | rs120074131 |
| ensembl | rs120074131 |
| geneview | rs120074131 |
| scholar | rs120074131 |
| rs120074131 | |
| pharmgkb | rs120074131 |
| gwascentral | rs120074131 |
| openSNP | rs120074131 |
| 23andMe | rs120074131 |
| SNPshot | rs120074131 |
| SNPdbe | rs120074131 |
| MSV3d | rs120074131 |
| GWAS Ctlg | rs120074131 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs120074131(C;C) |
| Alt | rs120074131(C;C) |
| Reference | Rs120074131(G;G) |
| Significance | Pathogenic |
| Disease | Niemann-pick disease |
| Variation | info |
| Gene | C18orf8 NPC1 |
| CLNDBN | Niemann-pick disease, type c1, juvenile form |
| Reversed | 1 |
| HGVS | NC_000018.9:g.21113434C>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000003099.3, |
