rs121912568, NR3C2

N. diseases: 1
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Pseudohypoaldosteronism, Type I, Autosomal Dominant
CUI: C1449842
Disease: Pseudohypoaldosteronism, Type I, Autosomal Dominant
20 1.000 0.120 4 148436373 stop gained G/C snv 0.700 0