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: rs17228212
rs17228212
0.807 0.160 15 67166301 intron variant T/C snv 0.21
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
Cardiovascular Diseases 0.810 1.000 3 2007 2012
dbSNP: rs744910
rs744910
1.000 0.080 15 67154447 intron variant G/A;T snv
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.810 1.000 3 2010 2012
dbSNP: rs387906851
rs387906851
1.000 15 67181364 missense variant C/T snv
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.800 1.000 6 2011 2017
dbSNP: rs387906852
rs387906852
1.000 15 67181418 missense variant G/A snv
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.800 1.000 6 2011 2017
dbSNP: rs17293632
rs17293632
0.763 0.240 15 67150258 intron variant C/T snv 0.17
CUI: C0010346
Disease: Crohn Disease
Crohn Disease
Digestive System Diseases 0.800 1.000 4 2010 2017
dbSNP: rs17293632
rs17293632
0.763 0.240 15 67150258 intron variant C/T snv 0.17
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases
Digestive System Diseases 0.800 1.000 3 2012 2017
dbSNP: rs17294280
rs17294280
0.882 0.120 15 67175947 intron variant A/G snv 0.19
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction
Immune System Diseases 0.800 1.000 2 2013 2016
dbSNP: rs387906850
rs387906850
0.925 15 67181441 missense variant C/T snv
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.800 1.000 2 2011 2011
dbSNP: rs387906853
rs387906853
0.925 0.040 15 67181297 stop gained G/A;T snv
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.800 1.000 2 2011 2011
dbSNP: rs12913547
rs12913547
15 67175169 intron variant T/C;G snv
CUI: C0524957
Disease: Corneal Topography
Corneal Topography
0.800 1.000 1 2013 2013
dbSNP: rs17228058
rs17228058
1.000 0.040 15 67157967 intron variant A/G snv 0.17
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction
Immune System Diseases 0.800 1.000 1 2013 2013
dbSNP: rs56062135
rs56062135
0.790 0.200 15 67163292 intron variant C/T snv 0.18
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.710 1.000 3 2015 2018
dbSNP: rs863223740
rs863223740
1.000 15 67181385 missense variant G/A snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 8 1999 2019
dbSNP: rs387906854
rs387906854
1.000 15 67165023 missense variant C/T snv
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3
0.700 1.000 6 2011 2017
dbSNP: rs17293632
rs17293632
0.763 0.240 15 67150258 intron variant C/T snv 0.17
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 0.700 1.000 3 2015 2017
dbSNP: rs72743461
rs72743461
0.827 0.160 15 67149412 intron variant C/A;T snv
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 3 2019 2019
dbSNP: rs12901372
rs12901372
1.000 0.040 15 67078168 intron variant C/A;G snv
CUI: C0029410
Disease: Osteoarthritis of hip
Osteoarthritis of hip
Musculoskeletal Diseases 0.700 1.000 2 2018 2019
dbSNP: rs35874463
rs35874463
0.827 0.120 15 67165360 missense variant A/G snv 4.0E-02 3.4E-02
CUI: C0005890
Disease: Body Height
Body Height
0.700 1.000 2 2017 2019
dbSNP: rs387906850
rs387906850
0.925 15 67181441 missense variant C/T snv
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 2 2011 2015
dbSNP: rs72743461
rs72743461
0.827 0.160 15 67149412 intron variant C/A;T snv
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.700 1.000 2 2017 2018
dbSNP: rs768713596
rs768713596
1.000 15 67164965 stop gained C/T snv 8.0E-06
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 2 2011 2014
dbSNP: rs863223754
rs863223754
1.000 15 67184843 frameshift variant -/C delins
Familial thoracic aortic aneurysm and aortic dissection
0.700 1.000 2 2011 2014
dbSNP: rs10152595
rs10152595
1.000 0.080 15 67183150 intron variant C/G;T snv
CUI: C0004096
Disease: Asthma
Asthma
Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs10152595
rs10152595
1.000 0.080 15 67183150 intron variant C/G;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs10438355
rs10438355
15 67195211 downstream gene variant C/G snv 0.20
CUI: C0042834
Disease: Vital capacity
Vital capacity
0.700 1.000 1 2019 2019