rs104893914, NR3C1

N. diseases: 2
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.
Glucocorticoid Receptor Deficiency
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
12 1.000 0.080 5 143282714 missense variant C/T snv 0.810 1.000 15 1991 2016
Hypertensive disease
CUI: C0020538
Disease: Hypertensive disease
1085 1.000 0.080 5 143282714 missense variant C/T snv 0.010 1 2018 2018