rs140080572
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs140080572(A;A) |
| Make rs140080572(A;C) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 3 |
| Position | 165830277 |
| Gene | BCHE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs140080572 |
| dbSNP (classic) | rs140080572 |
| ClinGen | rs140080572 |
| ebi | rs140080572 |
| HLI | rs140080572 |
| Exac | rs140080572 |
| Gnomad | rs140080572 |
| Varsome | rs140080572 |
| LitVar | rs140080572 |
| Map | rs140080572 |
| PheGenI | rs140080572 |
| Biobank | rs140080572 |
| 1000 genomes | rs140080572 |
| hgdp | rs140080572 |
| ensembl | rs140080572 |
| geneview | rs140080572 |
| scholar | rs140080572 |
| rs140080572 | |
| pharmgkb | rs140080572 |
| gwascentral | rs140080572 |
| openSNP | rs140080572 |
| 23andMe | rs140080572 |
| SNPshot | rs140080572 |
| SNPdbe | rs140080572 |
| MSV3d | rs140080572 |
| GWAS Ctlg | rs140080572 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs140080572(A;A) |
| Alt | rs140080572(A;A) |
| Reference | Rs140080572(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Deficiency of butyrylcholine esterase |
| Variation | info |
| Gene | BCHE |
| CLNDBN | Deficiency of butyrylcholine esterase |
| Reversed | 0 |
| HGVS | NC_000003.11:g.165548065C>A |
| CLNSRC | |
| CLNACC | RCV000411278.1, |
