Variant: rs587776991 

    present in Gene: PIEZO1
    present in Chromosome: 16
    Position on Chromosome: 88719665
    Alleles of this Variant: G/A

rs587776991 in PIEZO1 gene and DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA PMID 23479567 2013 Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.

PMID 23695678 2013 Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.