rs760182781
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs760182781(A;A) |
| Make rs760182781(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 3 |
| Position | 165830595 |
| Gene | BCHE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs760182781 |
| dbSNP (classic) | rs760182781 |
| ClinGen | rs760182781 |
| ebi | rs760182781 |
| HLI | rs760182781 |
| Exac | rs760182781 |
| Gnomad | rs760182781 |
| Varsome | rs760182781 |
| LitVar | rs760182781 |
| Map | rs760182781 |
| PheGenI | rs760182781 |
| Biobank | rs760182781 |
| 1000 genomes | rs760182781 |
| hgdp | rs760182781 |
| ensembl | rs760182781 |
| geneview | rs760182781 |
| scholar | rs760182781 |
| rs760182781 | |
| pharmgkb | rs760182781 |
| gwascentral | rs760182781 |
| openSNP | rs760182781 |
| 23andMe | rs760182781 |
| SNPshot | rs760182781 |
| SNPdbe | rs760182781 |
| MSV3d | rs760182781 |
| GWAS Ctlg | rs760182781 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs760182781(A;A) rs760182781(C;C) |
| Alt | rs760182781(A;A) rs760182781(C;C) |
| Reference | Rs760182781(G;G) |
| Significance | Probable-Pathogenic |
| Disease | Deficiency of butyrylcholine esterase |
| Variation | info |
| Gene | BCHE |
| CLNDBN | Deficiency of butyrylcholine esterase |
| Reversed | 0 |
| HGVS | NC_000003.11:g.165548383G>A |
| CLNSRC | |
| CLNACC | RCV000409468.1, |
