rs769250383
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs769250383(A;G) |
| Make rs769250383(G;G) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 22 |
| Position | 50523705 |
| Gene | NCAPH2, SCO2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs769250383 |
| dbSNP (classic) | rs769250383 |
| ClinGen | rs769250383 |
| ebi | rs769250383 |
| HLI | rs769250383 |
| Exac | rs769250383 |
| Gnomad | rs769250383 |
| Varsome | rs769250383 |
| LitVar | rs769250383 |
| Map | rs769250383 |
| PheGenI | rs769250383 |
| Biobank | rs769250383 |
| 1000 genomes | rs769250383 |
| hgdp | rs769250383 |
| ensembl | rs769250383 |
| geneview | rs769250383 |
| scholar | rs769250383 |
| rs769250383 | |
| pharmgkb | rs769250383 |
| gwascentral | rs769250383 |
| openSNP | rs769250383 |
| 23andMe | rs769250383 |
| SNPshot | rs769250383 |
| SNPdbe | rs769250383 |
| MSV3d | rs769250383 |
| GWAS Ctlg | rs769250383 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs769250383(G;G) |
| Alt | rs769250383(G;G) |
| Reference | Rs769250383(A;A) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | SCO2 NCAPH2 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000022.10:g.50962134A>G |
| CLNSRC | |
| CLNACC | RCV000199522.1, |
