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: rs137852704
rs137852704
0.882 0.160 16 23380574 stop gained C/G;T snv 4.0E-06
CUI: C0033805
Disease: Pseudohypoaldosteronism
Pseudohypoaldosteronism
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2016 2016