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.
LOEYS-DIETZ SYNDROME 4
CUI: C3553762
Disease: LOEYS-DIETZ SYNDROME 4
21 0.925 14 75963344 missense variant G/A snv 0.700 1.000 3 2014 2015
RIENHOFF SYNDROME
CUI: C3810012
Disease: RIENHOFF SYNDROME
7 0.925 14 75963344 missense variant G/A snv 0.700 0