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PIEZO1

From SNPedia
is agene
is mentioned by
ClinVarPIEZO1
GeneCardsPIEZO1
DiseasesPIEZO1
wikipediaPIEZO1
googlePIEZO1
gopubmedPIEZO1
EVSPIEZO1
HEFalMpPIEZO1
MyGene2PIEZO1
23andMePIEZO1
# SNPs30
 Max MagnitudeChromosome positionSummary
rs1012472070088,738,367
rs1044503388,774,054
rs1064796912088,733,644
rs200970763388,733,731
rs20122691488,732,511
rs202103485388,733,652
rs370296725088,717,172
rs587776987088,716,885
rs587776988088,715,804
rs587776989088,720,175
rs587776990088,725,505
rs587776991088,719,665
rs587776992088,715,692
rs587777764088,720,174
rs587777765088,727,144
rs587777766088,734,844
rs748155949088,731,721
rs75012488,746,706
rs75074088,740,930
rs869025596088,733,972
rs869025597088,722,285
rs869025598088,716,877
rs869025599088,726,546
rs869025600088,735,134
rs869025601088,715,960
rs886041515088,734,501
rs978896988,745,842
rs993330988,778,524

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).