rs80338963, SMAD4

N. diseases: 11
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 0.776 0.280 18 51065548 missense variant C/A;G;T snv 0.800 1.000 14 1997 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.776 0.280 18 51065548 missense variant C/A;G;T snv 0.700 1.000 8 1996 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
6387 0.776 0.280 18 51065548 missense variant C/A;G;T snv 0.700 1.000 6 1998 2016
Adenocarcinoma of lung (disorder)
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
563 0.776 0.280 18 51065548 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Adenocarcinoma of pancreas
CUI: C0281361
Disease: Adenocarcinoma of pancreas
138 0.776 0.280 18 51065548 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Esophageal carcinoma
CUI: C0152018
Disease: Esophageal carcinoma
272 0.776 0.280 18 51065548 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Gastric Adenocarcinoma
CUI: C0278701
Disease: Gastric Adenocarcinoma
235 0.776 0.280 18 51065548 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Mammary Neoplasms
CUI: C1458155
Disease: Mammary Neoplasms
385 0.776 0.280 18 51065548 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Squamous cell carcinoma of the head and neck
348 0.776 0.280 18 51065548 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
Uterine Cervical Neoplasm
CUI: C0007873
Disease: Uterine Cervical Neoplasm
72 0.776 0.280 18 51065548 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
23 0.776 0.280 18 51065548 missense variant C/A;G;T snv 0.700 0