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.
Corneal Dystrophy, Juvenile Epithelial of Meesmann
CUI: C0339277
Disease: Corneal Dystrophy, Juvenile Epithelial of Meesmann
18 1.000 0.080 17 40866802 missense variant T/C snv 0.700 1.000 14 1997 2014
Multiple congenital anomalies
CUI: C0000772
Disease: Multiple congenital anomalies
350 1.000 0.080 17 40866802 missense variant T/C snv 0.700 1.000 2 1997 2008