rs483352886
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs483352886(A;A) |
| Make rs483352886(A;G) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 18 |
| Position | 23554758 |
| Gene | NPC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs483352886 |
| dbSNP (classic) | rs483352886 |
| ClinGen | rs483352886 |
| ebi | rs483352886 |
| HLI | rs483352886 |
| Exac | rs483352886 |
| Gnomad | rs483352886 |
| Varsome | rs483352886 |
| LitVar | rs483352886 |
| Map | rs483352886 |
| PheGenI | rs483352886 |
| Biobank | rs483352886 |
| 1000 genomes | rs483352886 |
| hgdp | rs483352886 |
| ensembl | rs483352886 |
| geneview | rs483352886 |
| scholar | rs483352886 |
| rs483352886 | |
| pharmgkb | rs483352886 |
| gwascentral | rs483352886 |
| openSNP | rs483352886 |
| 23andMe | rs483352886 |
| SNPshot | rs483352886 |
| SNPdbe | rs483352886 |
| MSV3d | rs483352886 |
| GWAS Ctlg | rs483352886 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs483352886(A;A) |
| Alt | rs483352886(A;A) |
| Reference | Rs483352886(G;G) |
| Significance | Other |
| Disease | Niemann-Pick disease type C1 |
| Variation | info |
| Gene | NPC1 |
| CLNDBN | Niemann-Pick disease type C1 |
| Reversed | 1 |
| HGVS | NC_000018.9:g.21134722C>T |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000119327.4, |
