rs201820739
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs201820739(C;T) |
| Make rs201820739(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 3 |
| Position | 165830606 |
| Gene | BCHE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs201820739 |
| dbSNP (classic) | rs201820739 |
| ClinGen | rs201820739 |
| ebi | rs201820739 |
| HLI | rs201820739 |
| Exac | rs201820739 |
| Gnomad | rs201820739 |
| Varsome | rs201820739 |
| LitVar | rs201820739 |
| Map | rs201820739 |
| PheGenI | rs201820739 |
| Biobank | rs201820739 |
| 1000 genomes | rs201820739 |
| hgdp | rs201820739 |
| ensembl | rs201820739 |
| geneview | rs201820739 |
| scholar | rs201820739 |
| rs201820739 | |
| pharmgkb | rs201820739 |
| gwascentral | rs201820739 |
| openSNP | rs201820739 |
| 23andMe | rs201820739 |
| SNPshot | rs201820739 |
| SNPdbe | rs201820739 |
| MSV3d | rs201820739 |
| GWAS Ctlg | rs201820739 |
| Max Magnitude | 0 |
[PMID 27120077
] Exome Sequencing of Familial Bipolar Disorder. The minor allele of this SNP is one of 84 rare variants speculated to have an impact (positive or negative; see publication for specific SNP details) on risk for bipolar disorder. The analysis of many more patients is likely to be required to confirm or refute this association.
| ClinVar | |
|---|---|
| Risk | rs201820739(T;T) |
| Alt | rs201820739(T;T) |
| Reference | Rs201820739(C;C) |
| Significance | Pathogenic |
| Disease | Deficiency of butyrylcholine esterase |
| Variation | info |
| Gene | BCHE |
| CLNDBN | Deficiency of butyrylcholine esterase |
| Reversed | 0 |
| HGVS | NC_000003.11:g.165548394C>T |
| CLNSRC | |
| CLNACC | RCV000371428.1, |
