rs80338965, SMAD4

N. diseases: 5
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.
Myhre syndrome
CUI: C0796081
Disease: Myhre syndrome
7 0.851 0.480 18 51067121 frameshift variant CAGA/- delins 0.700 0
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
CUI: C1832942
Disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
23 0.851 0.480 18 51067121 frameshift variant CAGA/- delins 0.700 0
Juvenile polyposis syndrome
CUI: C0345893
Disease: Juvenile polyposis syndrome
138 0.851 0.480 18 51067121 frameshift variant CAGA/- delins 0.700 1.000 12 1998 2017
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
322 0.851 0.480 18 51067121 frameshift variant CAGA/- delins 0.700 0
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.851 0.480 18 51067121 frameshift variant CAGA/- delins 0.700 1.000 11 1998 2017