PIEZO1
From SNPedia
| is a | gene |
| is | mentioned by |
| ClinVar | PIEZO1 |
| GeneCards | PIEZO1 |
| Diseases | PIEZO1 |
| wikipedia | PIEZO1 |
| PIEZO1 | |
| gopubmed | PIEZO1 |
| EVS | PIEZO1 |
| HEFalMp | PIEZO1 |
| MyGene2 | PIEZO1 |
| 23andMe | PIEZO1 |
| # SNPs | 28 |
| Max Magnitude | Chromosome position | Summary | |
|---|---|---|---|
| rs1012472070 | 0 | 88,738,367 | |
| rs10445033 | 0 | 88,774,054 | |
| rs1064796912 | 0 | 88,733,644 | |
| rs200970763 | 1 | 88,733,731 | |
| rs201226914 | 0 | 88,732,511 | |
| rs202103485 | 1 | 88,733,652 | |
| rs370296725 | 0 | 88,717,172 | |
| rs587776987 | 0 | 88,716,885 | |
| rs587776988 | 0 | 88,715,804 | |
| rs587776989 | 0 | 88,720,175 | |
| rs587776990 | 0 | 88,725,505 | |
| rs587776991 | 0 | 88,719,665 | |
| rs587776992 | 0 | 88,715,692 | |
| rs587777764 | 0 | 88,720,174 | |
| rs587777765 | 0 | 88,727,144 | |
| rs587777766 | 0 | 88,734,844 | |
| rs748155949 | 0 | 88,731,721 | |
| rs750124 | 0 | 88,746,706 | |
| rs750740 | 0 | 88,740,930 | |
| rs869025596 | 0 | 88,733,972 | |
| rs869025597 | 0 | 88,722,285 | |
| rs869025598 | 0 | 88,716,877 | |
| rs869025599 | 0 | 88,726,546 | |
| rs869025600 | 0 | 88,735,134 | |
| rs869025601 | 0 | 88,715,960 | |
| rs886041515 | 0 | 88,734,501 | |
| rs9788969 | 0 | 88,745,842 | |
| rs9933309 | 0 | 88,778,524 |
From 10.1016/bs.ctm.2017.01.001:
Loss-of-function mutations in the human PIEZO1 gene cause autosomal recessive congenital lymphatic dysplasia. Gain-of-function mutations in the human PIEZO1 gene cause the autosomal dominant hemolytic anemia, hereditary xerocytosis (also known as dehydrated stomatocytosis).
