rs753508874
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs753508874(C;T) |
| Make rs753508874(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 11 |
| Position | 6393985 |
| Gene | SMPD1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs753508874 |
| dbSNP (classic) | rs753508874 |
| ClinGen | rs753508874 |
| ebi | rs753508874 |
| HLI | rs753508874 |
| Exac | rs753508874 |
| Gnomad | rs753508874 |
| Varsome | rs753508874 |
| LitVar | rs753508874 |
| Map | rs753508874 |
| PheGenI | rs753508874 |
| Biobank | rs753508874 |
| 1000 genomes | rs753508874 |
| hgdp | rs753508874 |
| ensembl | rs753508874 |
| geneview | rs753508874 |
| scholar | rs753508874 |
| rs753508874 | |
| pharmgkb | rs753508874 |
| gwascentral | rs753508874 |
| openSNP | rs753508874 |
| 23andMe | rs753508874 |
| SNPshot | rs753508874 |
| SNPdbe | rs753508874 |
| MSV3d | rs753508874 |
| GWAS Ctlg | rs753508874 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs753508874(T;T) |
| Alt | rs753508874(T;T) |
| Reference | Rs753508874(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Niemann-Pick disease |
| Variation | info |
| Gene | SMPD1 |
| CLNDBN | Niemann-Pick disease, type A |
| Reversed | 0 |
| HGVS | NC_000011.9:g.6415215C>T |
| CLNSRC | |
| CLNACC | RCV000169478.1, |
