WNK1, WNK lysine deficient protein kinase 1, 65125

N. diseases: 460; N. variants: 26
Disease: Pseudohypoaldosteronism, Type IIc ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs111033591
rs111033591 		0.925 0.160 12 868697 stop gained C/T snv 1.6E-05 2.1E-05
CUI: C1840391
Disease: Pseudohypoaldosteronism, Type IIc
Pseudohypoaldosteronism, Type IIc 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2005 2005
dbSNP: rs137852735
rs137852735 		0.882 0.160 12 868745 frameshift variant -/A delins
CUI: C1840391
Disease: Pseudohypoaldosteronism, Type IIc
Pseudohypoaldosteronism, Type IIc 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2004 2004