rs905880501, HSD3B2

N. diseases: 5
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 0.827 0.200 1 119422501 stop gained C/T snv 0.010 1.000 1 2012 2012
3 beta-Hydroxysteroid dehydrogenase deficiency
CUI: C0342471
Disease: 3 beta-Hydroxysteroid dehydrogenase deficiency
25 0.827 0.200 1 119422501 stop gained C/T snv 0.010 1.000 1 2012 2012
Adrenal Gland Hyperplasia II
CUI: C4284917
Disease: Adrenal Gland Hyperplasia II
3 0.827 0.200 1 119422501 stop gained C/T snv 0.010 1.000 1 2012 2012
Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
CUI: C2936858
Disease: Congenital adrenal hyperplasia due to 21 hydroxylase deficiency
62 0.827 0.200 1 119422501 stop gained C/T snv 0.010 1.000 1 2012 2012
Deficiency of steroid 21-monooxygenase
CUI: C0268287
Disease: Deficiency of steroid 21-monooxygenase
26 0.827 0.200 1 119422501 stop gained C/T snv 0.010 1.000 1 2012 2012