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 1.000 0.040 17 72124262 missense variant A/G snv 2.4E-05 1.4E-05 0.010 1 2019 2019
Congenital scoliosis
CUI: C0559260
Disease: Congenital scoliosis
7 1.000 0.040 17 72124262 missense variant A/G snv 2.4E-05 1.4E-05 0.010 1 2019 2019