rs768093045, 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 13885212 missense variant C/G;T snv 1.6E-05 0.700 0
Aarskog syndrome
CUI: C0175701
Disease: Aarskog syndrome
24 0.925 0.200 18 13885212 missense variant C/G;T snv 1.6E-05 0.010 1.000 1 2002 2002