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 Abnormality
CUI: C0000768
Disease: Congenital Abnormality
73 2 188984825 missense variant C/G snv 4.0E-06 0.010 1.000 1 2017 2017
Deformity
CUI: C0302142
Disease: Deformity
26 2 188984825 missense variant C/G snv 4.0E-06 0.010 1.000 1 2017 2017