rs765746795
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs765746795(C;G) |
| Make rs765746795(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 2 |
| Position | 232541451 |
| Gene | CHRNG |
| is a | snp |
| is | mentioned by |
| dbSNP | rs765746795 |
| dbSNP (classic) | rs765746795 |
| ClinGen | rs765746795 |
| ebi | rs765746795 |
| HLI | rs765746795 |
| Exac | rs765746795 |
| Gnomad | rs765746795 |
| Varsome | rs765746795 |
| LitVar | rs765746795 |
| Map | rs765746795 |
| PheGenI | rs765746795 |
| Biobank | rs765746795 |
| 1000 genomes | rs765746795 |
| hgdp | rs765746795 |
| ensembl | rs765746795 |
| geneview | rs765746795 |
| scholar | rs765746795 |
| rs765746795 | |
| pharmgkb | rs765746795 |
| gwascentral | rs765746795 |
| openSNP | rs765746795 |
| 23andMe | rs765746795 |
| SNPshot | rs765746795 |
| SNPdbe | rs765746795 |
| MSV3d | rs765746795 |
| GWAS Ctlg | rs765746795 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs765746795(G;G) |
| Alt | rs765746795(G;G) |
| Reference | Rs765746795(C;C) |
| Significance | Pathogenic |
| Disease | Multiple pterygium syndrome Escobar type |
| Variation | info |
| Gene | CHRNG |
| CLNDBN | Multiple pterygium syndrome Escobar type |
| Reversed | 0 |
| HGVS | NC_000002.11:g.233406161C>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000201797.2, |
