PIEZO2
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | PIEZO2 |
| GeneCards | PIEZO2 |
| Diseases | PIEZO2 |
| wikipedia | PIEZO2 |
| PIEZO2 | |
| gopubmed | PIEZO2 |
| EVS | PIEZO2 |
| HEFalMp | PIEZO2 |
| MyGene2 | PIEZO2 |
| 23andMe | PIEZO2 |
| # SNPs | 26 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1057519425 | 0 | 10,705,375 | |
| rs1057519426 | 0 | 10,794,978 | |
| rs1057519626 | 0 | 10,762,940 | |
| rs11080466 | 0 | 10,899,030 | |
| rs12455924 | 0 | 11,064,410 | |
| rs264272 | 0 | 10,923,810 | |
| rs2865126 | 0 | 10,766,427 | |
| rs587777076 | 0 | 10,784,872 | |
| rs587777077 | 0 | 10,671,605 | |
| rs587777450 | 0 | 10,671,729 | |
| rs587777451 | 0 | 10,671,730 | |
| rs587777452 | 0 | 10,671,633 | |
| rs587777453 | 0 | 10,789,114 | |
| rs587777454 | 0 | 10,671,571 | |
| rs724159993 | 0 | 10,671,541 | |
| rs878853135 | 0 | 10,671,578 | |
| rs878853136 | 0 | 10,671,603 | |
| rs878853137 | 0 | 10,689,746 | |
| rs878853138 | 0 | 10,696,257 | |
| rs878853139 | 0 | 10,696,263 | |
| rs878853140 | 0 | 10,762,977 | |
| rs886039821 | 0 | 10,715,679 | |
| rs886039822 | 0 | 10,736,621 | |
| rs886039823 | 0 | 10,715,678 | |
| rs886039824 | 0 | 10,773,414 | |
| rs927091191 | 0 | 10,855,557 |
From 10.1016/bs.ctm.2017.01.001:
Loss-of-function mutations in the human PIEZO2 gene cause an autosomal recessive syndrome of muscular atrophy with perinatal respiratory distress, arthrogryposis, and scoliosis. Gain-of-function mutations in the human PIEZO2 gene cause three clinical types of autosomal dominant distal arthrogryposis.
