rs377767347, SMAD4

N. diseases: 14
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.
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 1.000 8 1996 2016
Juvenile polyposis syndrome
CUI: C0345893
Disease: Juvenile polyposis syndrome
138 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 1.000 8 1998 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 1.000 7 1998 2010
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
138 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
272 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
235 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Squamous cell carcinoma of the head and neck
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
348 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Uterine Cervical Neoplasm
CUI: C0007873
Disease: Uterine Cervical Neoplasm
72 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
Colorectal Carcinoma
CUI: C0009402
Disease: Colorectal Carcinoma
1962 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 0
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
CUI: C1832942
Disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
23 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 0
Myhre syndrome
CUI: C0796081
Disease: Myhre syndrome
7 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 0
Pancreatic carcinoma
CUI: C0235974
Disease: Pancreatic carcinoma
322 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 0