rs758709668, MC2R

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.
Familial Glucocorticoid Deficiency Type 1
CUI: C4049650
Disease: Familial Glucocorticoid Deficiency Type 1
18 0.925 0.200 18 13885082 missense variant C/A;T snv 4.0E-06; 3.2E-05 0.800 1.000 5 1995 2008
Aarskog syndrome
CUI: C0175701
Disease: Aarskog syndrome
24 0.925 0.200 18 13885082 missense variant C/A;T snv 4.0E-06; 3.2E-05 0.020 1.000 2 1998 2006