rs377767360, SMAD4

N. diseases: 4
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.
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.882 0.240 18 51076662 stop gained C/T snv 4.0E-06 0.700 1.000 6 1999 2015
Juvenile polyposis syndrome
CUI: C0345893
Disease: Juvenile polyposis syndrome
138 0.882 0.240 18 51076662 stop gained C/T snv 4.0E-06 0.700 0
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
CUI: C1832942
Disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
23 0.882 0.240 18 51076662 stop gained C/T snv 4.0E-06 0.700 0
Familial multiple trichoepitheliomata
CUI: C1275122
Disease: Familial multiple trichoepitheliomata
32 0.882 0.240 18 51076662 stop gained C/T snv 4.0E-06 0.010 1.000 1 2014 2014