rs281875324, SMAD4

N. diseases: 3
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 syndrome
CUI: C0345893
Disease: Juvenile polyposis syndrome
138 1.000 0.120 18 51065456 missense variant A/C;G snv 0.800 1.000 2 1998 2002
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 1.000 0.120 18 51065456 missense variant A/C;G snv 0.700 1.000 7 1996 2007
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.120 18 51065456 missense variant A/C;G snv 0.700 1.000 4 2002 2012