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.
Cerebral Palsy
CUI: C0007789
Disease: Cerebral Palsy
69 0.925 0.120 2 113241628 missense variant C/G;T snv 2.4E-04 0.010 1.000 1 2018 2018
Thyroid Dysgenesis
CUI: C1563716
Disease: Thyroid Dysgenesis
5 0.925 0.120 2 113241628 missense variant C/G;T snv 2.4E-04 0.010 1.000 1 2018 2018