Variant: rs200970763 

    present in Gene: LOC100289580;PIEZO1
    present in Chromosome: 16
    Position on Chromosome: 88733731
    Alleles of this Variant: C/A;T

rs200970763 in LOC100289580;PIEZO1 gene and DEHYDRATED HEREDITARY STOMATOCYTOSIS 1 WITH OR WITHOUT PSEUDOHYPERKALEMIA AND/OR PERINATAL EDEMA PMID 23695678 2013 Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.

PMID 23973043 2014 Dehydrated stomatocytic anemia due to the heterozygous mutation R2456H in the mechanosensitive cation channel PIEZO1: a case report.

PMID 22529292 2012 Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis.

PMID 23581886 2014 Recurrent mutation in the PIEZO1 gene in two families of hereditary xerocytosis with fetal hydrops.

PMID 23479567 2013 Multiple clinical forms of dehydrated hereditary stomatocytosis arise from mutations in PIEZO1.

PMID 23487776 2013 Xerocytosis is caused by mutations that alter the kinetics of the mechanosensitive channel PIEZO1.