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 0.080 17 72121618 missense variant C/A snv 0.710 1.000 12 1995 2013
Acampomelic Campomelic Dysplasia
CUI: C1861923
Disease: Acampomelic Campomelic Dysplasia
3 0.925 0.080 17 72121618 missense variant C/A snv 0.700 0