rs140130028
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs140130028(C;T) |
| Make rs140130028(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 14 |
| Position | 74480701 |
| Gene | MIR4709, NPC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs140130028 |
| dbSNP (classic) | rs140130028 |
| ClinGen | rs140130028 |
| ebi | rs140130028 |
| HLI | rs140130028 |
| Exac | rs140130028 |
| Gnomad | rs140130028 |
| Varsome | rs140130028 |
| LitVar | rs140130028 |
| Map | rs140130028 |
| PheGenI | rs140130028 |
| Biobank | rs140130028 |
| 1000 genomes | rs140130028 |
| hgdp | rs140130028 |
| ensembl | rs140130028 |
| geneview | rs140130028 |
| scholar | rs140130028 |
| rs140130028 | |
| pharmgkb | rs140130028 |
| gwascentral | rs140130028 |
| openSNP | rs140130028 |
| 23andMe | rs140130028 |
| SNPshot | rs140130028 |
| SNPdbe | rs140130028 |
| MSV3d | rs140130028 |
| GWAS Ctlg | rs140130028 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs140130028(T;T) |
| Alt | rs140130028(T;T) |
| Reference | Rs140130028(C;C) |
| Significance | Pathogenic |
| Disease | Niemann-Pick disease type C2 not provided not specified |
| Variation | info |
| Gene | MIR4709 NPC2 |
| CLNDBN | Niemann-Pick disease type C2 not provided not specified |
| Reversed | 0 |
| HGVS | NC_000014.8:g.74947404C>T |
| CLNSRC | HGMD |
| CLNACC | RCV000087100.1, RCV000153589.5, RCV000259044.2, |
