rs772259613
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (TCTT;TCTT) | 0 | common in clinvar |
| Make rs772259613(-;-) |
| Make rs772259613(-;TCTT) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 3 |
| Position | 165830536 |
| Gene | BCHE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs772259613 |
| dbSNP (classic) | rs772259613 |
| ClinGen | rs772259613 |
| ebi | rs772259613 |
| HLI | rs772259613 |
| Exac | rs772259613 |
| Gnomad | rs772259613 |
| Varsome | rs772259613 |
| LitVar | rs772259613 |
| Map | rs772259613 |
| PheGenI | rs772259613 |
| Biobank | rs772259613 |
| 1000 genomes | rs772259613 |
| hgdp | rs772259613 |
| ensembl | rs772259613 |
| geneview | rs772259613 |
| scholar | rs772259613 |
| rs772259613 | |
| pharmgkb | rs772259613 |
| gwascentral | rs772259613 |
| openSNP | rs772259613 |
| 23andMe | rs772259613 |
| SNPshot | rs772259613 |
| SNPdbe | rs772259613 |
| MSV3d | rs772259613 |
| GWAS Ctlg | rs772259613 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs772259613(-;-) |
| Alt | rs772259613(-;-) |
| Reference | Rs772259613(TCTT;TCTT) |
| Significance | Probable-Pathogenic |
| Disease | Deficiency of butyrylcholine esterase |
| Variation | info |
| Gene | BCHE |
| CLNDBN | Deficiency of butyrylcholine esterase |
| Reversed | 0 |
| HGVS | NC_000003.11:g.165548324_165548327delTCTT |
| CLNSRC | |
| CLNACC | RCV000409931.1, |
