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.
CAMPOMELIC DYSPLASIA
CUI: C1861922
Disease: CAMPOMELIC DYSPLASIA
20 0.925 0.200 17 72122759 missense variant G/A snv 0.700 1.000 12 1995 2013
CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
CUI: C1842462
Disease: CAMPOMELIC DYSPLASIA WITH AUTOSOMAL SEX REVERSAL
4 0.925 0.200 17 72122759 missense variant G/A snv 0.700 0