rs779366544
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs779366544(C;C) |
| Make rs779366544(C;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 3 |
| Position | 165773508 |
| Gene | BCHE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs779366544 |
| dbSNP (classic) | rs779366544 |
| ClinGen | rs779366544 |
| ebi | rs779366544 |
| HLI | rs779366544 |
| Exac | rs779366544 |
| Gnomad | rs779366544 |
| Varsome | rs779366544 |
| LitVar | rs779366544 |
| Map | rs779366544 |
| PheGenI | rs779366544 |
| Biobank | rs779366544 |
| 1000 genomes | rs779366544 |
| hgdp | rs779366544 |
| ensembl | rs779366544 |
| geneview | rs779366544 |
| scholar | rs779366544 |
| rs779366544 | |
| pharmgkb | rs779366544 |
| gwascentral | rs779366544 |
| openSNP | rs779366544 |
| 23andMe | rs779366544 |
| SNPshot | rs779366544 |
| SNPdbe | rs779366544 |
| MSV3d | rs779366544 |
| GWAS Ctlg | rs779366544 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs779366544(C;C) |
| Alt | rs779366544(C;C) |
| Reference | Rs779366544(T;T) |
| Significance | Probable-Pathogenic |
| Disease | Deficiency of butyrylcholine esterase |
| Variation | info |
| Gene | BCHE |
| CLNDBN | Deficiency of butyrylcholine esterase |
| Reversed | 0 |
| HGVS | NC_000003.11:g.165491296T>C |
| CLNSRC | |
| CLNACC | RCV000412448.1, |
