rs560588447
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common/normal |
| (-;T) | 3 | Carrier of a prekallikrein deficiency mutation |
| Make rs560588447(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 4 |
| Position | 186236896 |
| Gene | KLKB1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs560588447 |
| dbSNP (classic) | rs560588447 |
| ClinGen | rs560588447 |
| ebi | rs560588447 |
| HLI | rs560588447 |
| Exac | rs560588447 |
| Gnomad | rs560588447 |
| Varsome | rs560588447 |
| LitVar | rs560588447 |
| Map | rs560588447 |
| PheGenI | rs560588447 |
| Biobank | rs560588447 |
| 1000 genomes | rs560588447 |
| hgdp | rs560588447 |
| ensembl | rs560588447 |
| geneview | rs560588447 |
| scholar | rs560588447 |
| rs560588447 | |
| pharmgkb | rs560588447 |
| gwascentral | rs560588447 |
| openSNP | rs560588447 |
| 23andMe | rs560588447 |
| SNPshot | rs560588447 |
| SNPdbe | rs560588447 |
| MSV3d | rs560588447 |
| GWAS Ctlg | rs560588447 |
| Max Magnitude | 3 |
Prekallikrein deficiency (recessive); aka c.451dupT
[PMID 26334176
] This SNP is included in a curated list of mutations useful to include on an Ashkenazi Jews screening panel.
