FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
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: rs1036476
rs1036476
1.000 0.040 15 48622578 intron variant T/C snv 7.5E-02
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic
Cardiovascular Diseases 0.800 1.000 1 2011 2011
dbSNP: rs1036477
rs1036477
0.882 0.040 15 48622729 intron variant A/G snv 0.24
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic
Cardiovascular Diseases 0.700 1.000 1 2011 2011
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: 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: rs1354738
rs1354738
1.000 0.040 15 48591499 intron variant T/C snv 0.19
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: rs1678983
rs1678983
1.000 0.040 15 48638448 intron variant T/C snv 0.24
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: 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: 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: 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: rs2118181
rs2118181
0.851 0.040 15 48623687 intron variant T/C snv 0.23
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic
Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2247876
rs2247876
1.000 0.040 15 48639254 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: 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: 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: 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: rs2437946
rs2437946
1.000 0.040 15 48633805 intron variant G/A snv 0.40
CUI: C0162872
Disease: Aortic Aneurysm, Thoracic
Aortic Aneurysm, Thoracic
Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs2448485
rs2448485
1.000 0.040 15 48567536 intron variant A/G snv 0.35
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: 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: 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
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: 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