rs1351141519, POMC

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.
3 beta-Hydroxysteroid dehydrogenase deficiency
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
25 0.882 0.200 2 25161718 missense variant G/C snv 0.010 1.000 1 2015 2015
Adrenal Gland Hyperplasia II
CUI: C4284917
Disease: Adrenal Gland Hyperplasia II
3 0.882 0.200 2 25161718 missense variant G/C snv 0.010 1.000 1 2015 2015
Congenital adrenal hyperplasia
CUI: C0001627
Disease: Congenital adrenal hyperplasia
36 0.882 0.200 2 25161718 missense variant G/C snv 0.010 1.000 1 2015 2015