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.
Vital capacity
CUI: C0042834
Disease: Vital capacity
746 1.000 1 218347653 intron variant A/C;G snv 0.39 0.700 1.000 1 2019 2019
Conotruncal defect
CUI: C1853238
Disease: Conotruncal defect
45 1.000 1 218347653 intron variant A/C;G snv 0.39 0.010 1.000 1 2017 2017