RS139051768 PIEZO1

Health Risk Chr 16:88721826 snv missense variant

Upload your DNA to see your genotype for this variant.

Associated Conditions

Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

Lymphatic malformation 6

Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema

Lymphatic malformation 6

Population Frequencies

gnomAD ALL

98.9%

1kG AFR

100%

1kG ALL

0.9%

1kG AMR

0.7%

1kG EAS

100%

1kG EUR

1.7%

1kG SAS

2.5%

Other Variants in PIEZO1