rs587781618, 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 syndrome
CUI: C0345893
Disease: Juvenile polyposis syndrome
138 1.000 0.120 18 51067188 splice donor variant G/A;T snv 0.700 1.000 3 2005 2012
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 1.000 0.120 18 51067188 splice donor variant G/A;T snv 0.700 0