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: rs863223740
rs863223740 		1.000 15 67181385 missense variant G/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 8 1999 2019
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: 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: 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
CUI: C3151087
Disease: LOEYS-DIETZ SYNDROME 3
LOEYS-DIETZ SYNDROME 3 		0.800 1.000 2 2011 2011
dbSNP: rs387906850
rs387906850 		0.925 15 67181441 missense variant C/T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 2 2011 2015
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: rs768713596
rs768713596 		1.000 15 67164965 stop gained C/T snv 8.0E-06
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
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
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
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: 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
dbSNP: rs11071939
rs11071939 		15 67171053 intron variant T/C snv 6.1E-02
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs12912010
rs12912010 		15 67174805 intron variant G/T snv 0.24
CUI: C1720164
Disease: Central corneal thickness
Central corneal thickness 		0.700 1.000 1 2018 2018
dbSNP: rs12912045
rs12912045 		15 67174959 intron variant C/T snv 0.25
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2017 2017
dbSNP: rs12913547
rs12913547 		15 67175169 intron variant T/C;G snv
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
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: rs1566999423
rs1566999423 		1.000 15 67181318 frameshift variant -/GACA delins
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 1 2019 2019
dbSNP: rs1566999601
rs1566999601 		1.000 15 67181430 missense variant T/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 1 2019 2019
dbSNP: rs1566999610
rs1566999610 		1.000 15 67181433 missense variant A/G snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 1 2019 2019
dbSNP: rs17293632
rs17293632 		0.763 0.240 15 67150258 intron variant C/T snv 0.17
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs2033784
rs2033784 		1.000 0.080 15 67157322 intron variant A/G snv 0.35
CUI: C0200641
Disease: Blood basophil count (lab test)
Blood basophil count (lab test) 		0.700 1.000 1 2016 2016
dbSNP: rs2033784
rs2033784 		1.000 0.080 15 67157322 intron variant A/G snv 0.35
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs35251008
rs35251008 		15 67176187 intron variant A/C;G snv
CUI: C0040420
Disease: Tonometry
Tonometry 		0.700 1.000 1 2018 2018
dbSNP: rs35874463
rs35874463 		0.827 0.120 15 67165360 missense variant A/G snv 4.0E-02 3.4E-02
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		0.700 1.000 1 2019 2019