rs28940892, MC2R

N. diseases: 3
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.
Familial Glucocorticoid Deficiency Type 1
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
18 0.882 0.200 18 13884758 missense variant T/C snv 0.800 1.000 5 1993 2002
Aarskog syndrome
CUI: C0175701
Disease: Aarskog syndrome
24 0.882 0.200 18 13884758 missense variant T/C snv 0.010 1.000 1 2012 2012
Familial glucocorticoid deficiency
CUI: C4054695
Disease: Familial glucocorticoid deficiency
4 0.882 0.200 18 13884758 missense variant T/C snv 0.010 1.000 1 1995 1995