rs143141578, NR0B1

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.
Congenital hypoplasia of adrenal gland
CUI: C0220766
Disease: Congenital hypoplasia of adrenal gland
13 0.925 0.080 X 30308764 missense variant G/C snv 2.3E-04 3.9E-04 0.010 1.000 1 2006 2006
X-linked Adrenal Hypoplasia
CUI: C0342482
Disease: X-linked Adrenal Hypoplasia
70 0.925 0.080 X 30308764 missense variant G/C snv 2.3E-04 3.9E-04 0.010 1.000 1 2006 2006