rs114706984
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs114706984(A;A) |
| Make rs114706984(A;G) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 3 |
| Position | 165830399 |
| Gene | BCHE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs114706984 |
| dbSNP (classic) | rs114706984 |
| ClinGen | rs114706984 |
| ebi | rs114706984 |
| HLI | rs114706984 |
| Exac | rs114706984 |
| Gnomad | rs114706984 |
| Varsome | rs114706984 |
| LitVar | rs114706984 |
| Map | rs114706984 |
| PheGenI | rs114706984 |
| Biobank | rs114706984 |
| 1000 genomes | rs114706984 |
| hgdp | rs114706984 |
| ensembl | rs114706984 |
| geneview | rs114706984 |
| scholar | rs114706984 |
| rs114706984 | |
| pharmgkb | rs114706984 |
| gwascentral | rs114706984 |
| openSNP | rs114706984 |
| 23andMe | rs114706984 |
| SNPshot | rs114706984 |
| SNPdbe | rs114706984 |
| MSV3d | rs114706984 |
| GWAS Ctlg | rs114706984 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs114706984(A;A) |
| Alt | rs114706984(A;A) |
| Reference | Rs114706984(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.165548187G>A |
| CLNSRC | |
| CLNACC | RCV000412062.1, |
