rs148987163
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs148987163(G;T) |
| Make rs148987163(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 20 |
| Position | 3916926 |
| Gene | MIR103A2, PANK2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs148987163 |
| dbSNP (classic) | rs148987163 |
| ClinGen | rs148987163 |
| ebi | rs148987163 |
| HLI | rs148987163 |
| Exac | rs148987163 |
| Gnomad | rs148987163 |
| Varsome | rs148987163 |
| LitVar | rs148987163 |
| Map | rs148987163 |
| PheGenI | rs148987163 |
| Biobank | rs148987163 |
| 1000 genomes | rs148987163 |
| hgdp | rs148987163 |
| ensembl | rs148987163 |
| geneview | rs148987163 |
| scholar | rs148987163 |
| rs148987163 | |
| pharmgkb | rs148987163 |
| gwascentral | rs148987163 |
| openSNP | rs148987163 |
| 23andMe | rs148987163 |
| SNPshot | rs148987163 |
| SNPdbe | rs148987163 |
| MSV3d | rs148987163 |
| GWAS Ctlg | rs148987163 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs148987163(T;T) |
| Alt | rs148987163(T;T) |
| Reference | Rs148987163(G;G) |
| Significance | Pathogenic |
| Disease | Hypoprebetalipoproteinemia Pigmentary pallidal degeneration |
| Variation | info |
| Gene | MIR103A2 PANK2 |
| CLNDBN | Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration Pigmentary pallidal degeneration |
| Reversed | 0 |
| HGVS | NC_000020.10:g.3897573G>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000004820.2, RCV000004821.2, |
