FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Aortic Aneurysm ×
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: rs137854466
rs137854466 		0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503054
rs727503054 		0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		Cardiovascular Diseases 0.700 0
dbSNP: rs10519177
rs10519177 		0.925 0.040 15 48464998 intron variant A/G snv 0.35
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		Cardiovascular Diseases 0.020 0.500 2 2014 2015
dbSNP: rs2118181
rs2118181 		0.851 0.040 15 48623687 intron variant T/C snv 0.23
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		Cardiovascular Diseases 0.020 0.500 2 2014 2015
dbSNP: rs1036477
rs1036477 		0.882 0.040 15 48622729 intron variant A/G snv 0.24
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs140598
rs140598 		0.827 0.160 15 48487333 missense variant G/A;C snv 3.2E-02
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		Cardiovascular Diseases 0.010 1.000 1 1997 1997
dbSNP: rs4774517
rs4774517 		0.882 0.040 15 48467094 intron variant G/T snv 0.34
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs755251
rs755251 		0.925 0.040 15 48519823 intron variant A/G;T snv
CUI: C0003486
Disease: Aortic Aneurysm
Aortic Aneurysm 		Cardiovascular Diseases 0.010 1.000 1 2015 2015