rs768768839, POMC

N. diseases: 6
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.
21-hydroxylase deficiency
CUI: C0852654
Disease: 21-hydroxylase deficiency
28 0.807 0.280 2 25161679 missense variant G/A snv 5.6E-06 0.010 1.000 1 2008 2008
Chronic active hepatitis
CUI: C0520463
Disease: Chronic active hepatitis
34 0.807 0.280 2 25161679 missense variant G/A snv 5.6E-06 0.010 1.000 1 2004 2004
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
62 0.807 0.280 2 25161679 missense variant G/A snv 5.6E-06 0.010 1.000 1 2008 2008
Deficiency of steroid 21-monooxygenase
CUI: C0268287
Disease: Deficiency of steroid 21-monooxygenase
26 0.807 0.280 2 25161679 missense variant G/A snv 5.6E-06 0.010 1.000 1 2008 2008
Hypertrichosis
CUI: C0020555
Disease: Hypertrichosis
27 0.807 0.280 2 25161679 missense variant G/A snv 5.6E-06 0.010 1.000 1 2004 2004
Precocious pubarche
CUI: C0342541
Disease: Precocious pubarche
11 0.807 0.280 2 25161679 missense variant G/A snv 5.6E-06 0.010 1.000 1 2004 2004