SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs281875320
rs281875320 		1.000 0.320 18 51078308 missense variant A/G snv
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 2 2011 2012
dbSNP: rs281875321
rs281875321 		0.925 0.360 18 51078307 missense variant T/C snv
CUI: C0796081
Disease: Myhre syndrome
Myhre syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Male Urogenital Diseases; Nervous System Diseases; Endocrine System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.800 1.000 2 2011 2012
dbSNP: rs281875324
rs281875324 		1.000 0.120 18 51065456 missense variant A/C;G snv
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.800 1.000 2 1998 2002
dbSNP: rs377767326
rs377767326 		1.000 0.120 18 51048839 stop gained C/T snv
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 2 2006 2007
dbSNP: rs1057519962
rs1057519962 		0.827 0.160 18 51067035 missense variant G/A;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519962
rs1057519962 		0.827 0.160 18 51067035 missense variant G/A;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519962
rs1057519962 		0.827 0.160 18 51067035 missense variant G/A;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519962
rs1057519962 		0.827 0.160 18 51067035 missense variant G/A;T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs1057519962
rs1057519962 		0.827 0.160 18 51067035 missense variant G/A;T snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1057519962
rs1057519962 		0.827 0.160 18 51067035 missense variant G/A;T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs1060500733
rs1060500733 		1.000 0.120 18 51065563 stop gained C/T snv
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs11875522
rs11875522 		18 51065392 intron variant G/A snv 1.1E-02 4.8E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11875522
rs11875522 		18 51065392 intron variant G/A snv 1.1E-02 4.8E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs121912580
rs121912580 		0.807 0.280 18 51067036 missense variant G/A;C;T snv
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs121912580
rs121912580 		0.807 0.280 18 51067036 missense variant G/A;C;T snv
CUI: C0278701
Disease: Gastric Adenocarcinoma
Gastric Adenocarcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs121912580
rs121912580 		0.807 0.280 18 51067036 missense variant G/A;C;T snv
CUI: C0281361
Disease: Adenocarcinoma of pancreas
Adenocarcinoma of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121912580
rs121912580 		0.807 0.280 18 51067036 missense variant G/A;C;T snv
CUI: C0152018
Disease: Esophageal carcinoma
Esophageal carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs121912580
rs121912580 		0.807 0.280 18 51067036 missense variant G/A;C;T snv
CUI: C1832942
Disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 1.000 1 2004 2004
dbSNP: rs121912580
rs121912580 		0.807 0.280 18 51067036 missense variant G/A;C;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2016 2016
dbSNP: rs121912580
rs121912580 		0.807 0.280 18 51067036 missense variant G/A;C;T snv
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		Neoplasms; Male Urogenital Diseases 0.700 1.000 1 2016 2016
dbSNP: rs121912581
rs121912581 		0.925 0.200 18 51065521 missense variant G/A snv
CUI: C1832942
Disease: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder)
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.800 1.000 1 2004 2004
dbSNP: rs12455792
rs12455792 		18 51046270 intron variant C/A;T snv
CUI: C0003493
Disease: Aortic Diseases
Aortic Diseases 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12968012
rs12968012 		1.000 0.040 18 51041256 intron variant C/G snv 0.32
CUI: C0013595
Disease: Eczema
Eczema 		Skin and Connective Tissue Diseases 0.700 1.000 1 2019 2019
dbSNP: rs1343555503
rs1343555503 		1.000 0.040 18 51058364 missense variant G/A snv 4.0E-06
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1568211588
rs1568211588 		1.000 0.120 18 51078380 stop gained G/A snv
CUI: C0345893
Disease: Juvenile polyposis syndrome
Juvenile polyposis syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms 0.700 1.000 1 2004 2004