FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Aortic Aneurysm, Thoracic ×
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: rs1042078
rs1042078 		1.000 0.040 15 48410676 3 prime UTR variant G/A snv 0.64
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs16960901
rs16960901 		1.000 0.040 15 48413009 intron variant T/C snv 0.65
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2015637
rs2015637 		1.000 0.040 15 48424656 intron variant T/C;G snv
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs8034591
rs8034591 		1.000 0.040 15 48432571 intron variant C/G;T snv
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2042747
rs2042747 		1.000 0.040 15 48436437 intron variant C/T snv 0.66
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2303502
rs2303502 		1.000 0.040 15 48444487 intron variant A/T snv 0.66
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2303500
rs2303500 		1.000 0.040 15 48447077 intron variant A/G snv 0.67
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4775762
rs4775762 		1.000 0.040 15 48451808 intron variant T/C snv 0.76
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs714290
rs714290 		1.000 0.040 15 48459132 intron variant C/G snv 0.69
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs4774517
rs4774517 		0.882 0.040 15 48467094 intron variant G/T snv 0.34
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs9806323
rs9806323 		1.000 0.040 15 48473818 intron variant T/A snv 0.31
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11634866
rs11634866 		1.000 0.040 15 48482091 intron variant A/C;G snv
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11635140
rs11635140 		1.000 0.040 15 48490366 intron variant T/A;C snv
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs140605
rs140605 		1.000 0.040 15 48497437 intron variant T/C snv 0.28 0.35
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs9806163
rs9806163 		1.000 0.040 15 48511642 intron variant T/C snv 0.37
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2306352
rs2306352 		1.000 0.040 15 48513440 intron variant G/A snv 0.37
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs8034829
rs8034829 		1.000 0.040 15 48513830 intron variant T/C snv 0.17
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs16961065
rs16961065 		1.000 0.040 15 48514342 intron variant C/T snv 0.16
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs6493327
rs6493327 		1.000 0.040 15 48517231 intron variant G/A snv 0.17
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs7184016
rs7184016 		1.000 0.040 15 48518302 intron variant G/T snv 0.33
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs6493328
rs6493328 		1.000 0.040 15 48527305 intron variant G/A snv 0.49
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs8026752
rs8026752 		1.000 0.040 15 48531573 intron variant A/G snv 0.18
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs8041668
rs8041668 		1.000 0.040 15 48543158 intron variant T/C snv 0.62
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs589668
rs589668 		1.000 0.040 15 48543738 intron variant C/T snv 0.33
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs595244
rs595244 		0.882 0.080 15 48548638 intron variant C/T snv 7.7E-02
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic 		Cardiovascular Diseases 0.700 1.000 1 2016 2016