rs752077839, POMC

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
CUI: C4054695
Disease: Familial glucocorticoid deficiency
4 0.925 2 25161329 missense variant G/A snv 8.8E-06 0.010 1.000 1 2012 2012
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
CUI: C1849452
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 2 (disorder)
13 0.925 2 25161329 missense variant G/A snv 8.8E-06 0.010 1.000 1 2005 2005