rs121909727, NR3C1

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.
Glucocorticoid Receptor Deficiency
CUI: C1841972
Disease: Glucocorticoid Receptor Deficiency
12 1.000 0.080 5 143282014 missense variant A/G snv 0.800 1.000 14 1991 2016