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.
Lethal Arthrogryposis With Anterior Horn Cell Disease
CUI: C2678471
Disease: Lethal Arthrogryposis With Anterior Horn Cell Disease
7 0.925 0.120 9 128541124 missense variant T/C snv 3.6E-05 2.1E-05 0.800 1.000 1 2008 2008
Arthrogryposis
CUI: C0003886
Disease: Arthrogryposis
33 0.925 0.120 9 128541124 missense variant T/C snv 3.6E-05 2.1E-05 0.010 1.000 1 2018 2018