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: rs56324967
rs56324967 		0.776 0.080 15 67110486 intron variant T/C snv 0.52
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs56324967
rs56324967 		0.776 0.080 15 67110486 intron variant T/C snv 0.52
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs56062135
rs56062135 		0.790 0.200 15 67163292 intron variant C/T snv 0.18
CUI: C0741260
Disease: Adult onset asthma
Adult onset asthma 		0.700 1.000 1 2019 2019
dbSNP: rs72743461
rs72743461 		0.827 0.160 15 67149412 intron variant C/A;T snv
CUI: C0741260
Disease: Adult onset asthma
Adult onset asthma 		0.700 1.000 1 2019 2019
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: rs16950687
rs16950687 		15 67171675 intron variant A/G;T snv
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 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: rs17293632
rs17293632 		0.763 0.240 15 67150258 intron variant C/T snv 0.17
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1866316
rs1866316 		15 67149659 intron variant T/C snv 0.36
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2033784
rs2033784 		1.000 0.080 15 67157322 intron variant A/G snv 0.35
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs2278546
rs2278546 		15 67174264 intron variant A/G snv 0.34
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4562997
rs4562997 		15 67165814 intron variant G/A;T snv
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs56062135
rs56062135 		0.790 0.200 15 67163292 intron variant C/T snv 0.18
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2018 2018
dbSNP: rs56375023
rs56375023 		0.925 0.120 15 67156025 intron variant G/A snv 0.17
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs7173698
rs7173698 		15 67158555 intron variant A/G snv 0.36
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs7174445
rs7174445 		15 67158877 intron variant C/G snv 0.36
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs8032739
rs8032739 		15 67156561 intron variant A/G snv 0.36
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs17294280
rs17294280 		0.882 0.120 15 67175947 intron variant A/G snv 0.19
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs1057518977
rs1057518977 		1.000 0.040 15 67164969 missense variant G/T snv
CUI: C0002940
Disease: Aneurysm
Aneurysm 		Cardiovascular Diseases 0.700 0
dbSNP: rs17293632
rs17293632 		0.763 0.240 15 67150258 intron variant C/T snv 0.17
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs35874463
rs35874463 		0.827 0.120 15 67165360 missense variant A/G snv 4.0E-02 3.4E-02
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs72743477
rs72743477 		0.724 0.240 15 67171953 intron variant A/G snv 0.17
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2015 2015
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: 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: 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