rs28933389
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3.1 | Pseudocholinesterase Deficiency carrier |
| (T;T) | 3.5 | Pseudocholinesterase Deficiency |
| Reference | GRCh38 38.1/142 |
| Chromosome | 3 |
| Position | 165830222 |
| Gene | BCHE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28933389 |
| dbSNP (classic) | rs28933389 |
| ClinGen | rs28933389 |
| ebi | rs28933389 |
| HLI | rs28933389 |
| Exac | rs28933389 |
| Gnomad | rs28933389 |
| Varsome | rs28933389 |
| LitVar | rs28933389 |
| Map | rs28933389 |
| PheGenI | rs28933389 |
| Biobank | rs28933389 |
| 1000 genomes | rs28933389 |
| hgdp | rs28933389 |
| ensembl | rs28933389 |
| geneview | rs28933389 |
| scholar | rs28933389 |
| rs28933389 | |
| pharmgkb | rs28933389 |
| gwascentral | rs28933389 |
| openSNP | rs28933389 |
| 23andMe | rs28933389 |
| SNPshot | rs28933389 |
| SNPdbe | rs28933389 |
| MSV3d | rs28933389 |
| GWAS Ctlg | rs28933389 |
| GMAF | 0.0004591 |
| Max Magnitude | 3.5 |
aka c.812C>T (p.Thr271Met or T271M)
(T;T) has a moderate change in BCHE activity according to annerwright
| ClinVar | |
|---|---|
| Risk | Rs28933389(T;T) |
| Alt | Rs28933389(T;T) |
| Reference | Rs28933389(C;C) |
| Significance | Pathogenic |
| Disease | Butyrylcholinesterase deficiency |
| Variation | info |
| Gene | BCHE |
| CLNDBN | Butyrylcholinesterase deficiency, fluoride 1 |
| Reversed | 1 |
| HGVS | NC_000003.11:g.165548010G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014112.27, |
