rs1555686624, 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 0.882 0.480 18 51067189 splice donor variant T/C snv 0.700 0
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
CUI: C1832942
Disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
23 0.882 0.480 18 51067189 splice donor variant T/C snv 0.700 0
Myhre syndrome
CUI: C0796081
Disease: Myhre syndrome
7 0.882 0.480 18 51067189 splice donor variant T/C snv 0.700 0