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 Hypothyroidism
CUI: C0010308
Disease: Congenital Hypothyroidism
48 0.925 0.120 14 81143649 missense variant C/G;T snv 4.0E-06; 2.8E-05 0.020 1.000 2 2009 2016
Subclinical hypothyroidism
CUI: C0271790
Disease: Subclinical hypothyroidism
10 0.925 0.120 14 81143649 missense variant C/G;T snv 4.0E-06; 2.8E-05 0.010 1.000 1 2009 2009