rs754214624
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| (D;D) | 0 | common genotype |
| Make rs754214624(-;T) |
| Make rs754214624(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 3 |
| Position | 165830006 |
| Gene | BCHE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs754214624 |
| dbSNP (classic) | rs754214624 |
| ClinGen | rs754214624 |
| ebi | rs754214624 |
| HLI | rs754214624 |
| Exac | rs754214624 |
| Gnomad | rs754214624 |
| Varsome | rs754214624 |
| LitVar | rs754214624 |
| Map | rs754214624 |
| PheGenI | rs754214624 |
| Biobank | rs754214624 |
| 1000 genomes | rs754214624 |
| hgdp | rs754214624 |
| ensembl | rs754214624 |
| geneview | rs754214624 |
| scholar | rs754214624 |
| rs754214624 | |
| pharmgkb | rs754214624 |
| gwascentral | rs754214624 |
| openSNP | rs754214624 |
| 23andMe | rs754214624 |
| SNPshot | rs754214624 |
| SNPdbe | rs754214624 |
| MSV3d | rs754214624 |
| GWAS Ctlg | rs754214624 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs754214624(T;T) |
| Alt | rs754214624(T;T) |
| Reference | Rs754214624(-;-) |
| Significance | Probable-Pathogenic |
| Disease | Deficiency of butyrylcholine esterase |
| Variation | info |
| Gene | BCHE |
| CLNDBN | Deficiency of butyrylcholine esterase |
| Reversed | 0 |
| HGVS | NC_000003.11:g.165547795dupT |
| CLNSRC | |
| CLNACC | RCV000411348.1, |
