rs748973032
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs748973032(A;A) |
| Make rs748973032(A;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 22 |
| Position | 50524129 |
| Gene | NCAPH2, SCO2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs748973032 |
| dbSNP (classic) | rs748973032 |
| ClinGen | rs748973032 |
| ebi | rs748973032 |
| HLI | rs748973032 |
| Exac | rs748973032 |
| Gnomad | rs748973032 |
| Varsome | rs748973032 |
| LitVar | rs748973032 |
| Map | rs748973032 |
| PheGenI | rs748973032 |
| Biobank | rs748973032 |
| 1000 genomes | rs748973032 |
| hgdp | rs748973032 |
| ensembl | rs748973032 |
| geneview | rs748973032 |
| scholar | rs748973032 |
| rs748973032 | |
| pharmgkb | rs748973032 |
| gwascentral | rs748973032 |
| openSNP | rs748973032 |
| 23andMe | rs748973032 |
| SNPshot | rs748973032 |
| SNPdbe | rs748973032 |
| MSV3d | rs748973032 |
| GWAS Ctlg | rs748973032 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs748973032(A;A) |
| Alt | rs748973032(A;A) |
| Reference | Rs748973032(G;G) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | NCAPH2 SCO2 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000022.10:g.50962558G>A |
| CLNSRC | |
| CLNACC | RCV000196635.1, |
