rs751726519
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs751726519(A;G) |
| Make rs751726519(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 8 |
| Position | 60830412 |
| Gene | CHD7 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs751726519 |
| dbSNP (classic) | rs751726519 |
| ClinGen | rs751726519 |
| ebi | rs751726519 |
| HLI | rs751726519 |
| Exac | rs751726519 |
| Gnomad | rs751726519 |
| Varsome | rs751726519 |
| LitVar | rs751726519 |
| Map | rs751726519 |
| PheGenI | rs751726519 |
| Biobank | rs751726519 |
| 1000 genomes | rs751726519 |
| hgdp | rs751726519 |
| ensembl | rs751726519 |
| geneview | rs751726519 |
| scholar | rs751726519 |
| rs751726519 | |
| pharmgkb | rs751726519 |
| gwascentral | rs751726519 |
| openSNP | rs751726519 |
| 23andMe | rs751726519 |
| SNPshot | rs751726519 |
| SNPdbe | rs751726519 |
| MSV3d | rs751726519 |
| GWAS Ctlg | rs751726519 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs751726519(G;G) |
| Alt | rs751726519(G;G) |
| Reference | Rs751726519(A;A) |
| Significance | Probable-non-pathogenic |
| Disease | not specified CHARGE association Hypogonadism with anosmia |
| Variation | info |
| Gene | CHD7 |
| CLNDBN | not specified CHARGE association Hypogonadism with anosmia |
| Reversed | 0 |
| HGVS | NC_000008.10:g.61742971A>G |
| CLNSRC | |
| CLNACC | RCV000171413.2, RCV000282948.1, RCV000406540.1, |
