rs121912581, SMAD4

N. diseases: 2
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.
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
CUI: C1832942
Disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
23 0.925 0.200 18 51065521 missense variant G/A snv 0.800 1.000 1 2004 2004
Juvenile polyposis syndrome
CUI: C0345893
Disease: Juvenile polyposis syndrome
138 0.925 0.200 18 51065521 missense variant G/A snv 0.700 1.000 2 1998 2002