SMAD3, SMAD family member 3, 4088

N. diseases: 470; N. variants: 95
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: rs1060500764
rs1060500764 		1.000 0.080 15 67181363 missense variant A/G snv
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1065080
rs1065080 		1.000 0.040 15 67164997 missense variant A/G;T snv 0.87
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee 		Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs11071938
rs11071938 		1.000 0.080 15 67127649 intron variant C/T snv 0.27
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2020 2020
dbSNP: rs11556090
rs11556090 		1.000 0.080 15 67194045 3 prime UTR variant A/G snv 0.49
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs11632964
rs11632964 		1.000 0.080 15 67071235 intron variant C/G;T snv
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2020 2020
dbSNP: rs11632964
rs11632964 		1.000 0.080 15 67071235 intron variant C/G;T snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs12102171
rs12102171 		1.000 0.040 15 67132695 intron variant C/T snv 0.22
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs12595334
rs12595334 		1.000 0.040 15 67192818 3 prime UTR variant C/T snv 0.19
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12901071
rs12901071 		0.882 0.160 15 67078051 intron variant A/G snv 0.25
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		Musculoskeletal Diseases 0.010 1.000 1 2017 2017
dbSNP: rs12901071
rs12901071 		0.882 0.160 15 67078051 intron variant A/G snv 0.25
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs138550573
rs138550573 		1.000 0.120 15 67165004 start lost A/G snv 2.3E-04 9.7E-04
CUI: C0025267
Disease: Multiple Endocrine Neoplasia Type 1
Multiple Endocrine Neoplasia Type 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1438386
rs1438386 		1.000 0.120 15 67115561 intron variant G/A snv 0.51
CUI: C0026691
Disease: Mucocutaneous Lymph Node Syndrome
Mucocutaneous Lymph Node Syndrome 		Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1465841
rs1465841 		1.000 0.080 15 67093131 intron variant C/A;G snv
CUI: C0431109
Disease: Choroid Plexus Carcinoma
Choroid Plexus Carcinoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1470002
rs1470002 		1.000 0.040 15 67177230 intron variant A/G snv 0.54
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip 		Musculoskeletal Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs17228212
rs17228212 		0.807 0.160 15 67166301 intron variant T/C snv 0.21
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs17228212
rs17228212 		0.807 0.160 15 67166301 intron variant T/C snv 0.21
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs17228212
rs17228212 		0.807 0.160 15 67166301 intron variant T/C snv 0.21
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs17228212
rs17228212 		0.807 0.160 15 67166301 intron variant T/C snv 0.21
CUI: C1135191
Disease: Heart Failure, Systolic
Heart Failure, Systolic 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs17228212
rs17228212 		0.807 0.160 15 67166301 intron variant T/C snv 0.21
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs17228212
rs17228212 		0.807 0.160 15 67166301 intron variant T/C snv 0.21
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs17228212
rs17228212 		0.807 0.160 15 67166301 intron variant T/C snv 0.21
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs17293632
rs17293632 		0.763 0.240 15 67150258 intron variant C/T snv 0.17
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs17293632
rs17293632 		0.763 0.240 15 67150258 intron variant C/T snv 0.17
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs17293632
rs17293632 		0.763 0.240 15 67150258 intron variant C/T snv 0.17
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2118610
rs2118610 		1.000 0.080 15 67135996 intron variant T/C snv 0.59
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		Nervous System Diseases 0.010 1.000 1 2017 2017