rs28933390
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 3 | Possible pseudocholinesterase deficiency carrier |
| (T;T) | 4 | Pseudocholinesterase Deficiency |
| Reference | GRCh38 38.1/142 |
| Chromosome | 3 |
| Position | 165829781 |
| Gene | BCHE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28933390 |
| dbSNP (classic) | rs28933390 |
| ClinGen | rs28933390 |
| ebi | rs28933390 |
| HLI | rs28933390 |
| Exac | rs28933390 |
| Gnomad | rs28933390 |
| Varsome | rs28933390 |
| LitVar | rs28933390 |
| Map | rs28933390 |
| PheGenI | rs28933390 |
| Biobank | rs28933390 |
| 1000 genomes | rs28933390 |
| hgdp | rs28933390 |
| ensembl | rs28933390 |
| geneview | rs28933390 |
| scholar | rs28933390 |
| rs28933390 | |
| pharmgkb | rs28933390 |
| gwascentral | rs28933390 |
| openSNP | rs28933390 |
| 23andMe | rs28933390 |
| SNPshot | rs28933390 |
| SNPdbe | rs28933390 |
| MSV3d | rs28933390 |
| GWAS Ctlg | rs28933390 |
| GMAF | 0.003673 |
| Max Magnitude | 4 |
(T;T) abolishes catalytic activity in BCHE according to annerwright
| ClinVar | |
|---|---|
| Risk | rs28933390(A;A) rs28933390(C;C) Rs28933390(T;T) |
| Alt | rs28933390(A;A) rs28933390(C;C) Rs28933390(T;T) |
| Reference | Rs28933390(G;G) |
| Significance | Other |
| Disease | BCHE Deficiency of butyrylcholine esterase |
| Variation | info |
| Gene | BCHE |
| CLNDBN | BCHE, fluoride 2 Deficiency of butyrylcholine esterase |
| Reversed | 1 |
| HGVS | NC_000003.11:g.165547569C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000014116.25, RCV000360109.1, |
