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: rs113001196
rs113001196 		0.882 0.160 15 48432947 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 29 1986 2016
dbSNP: rs113001196
rs113001196 		0.882 0.160 15 48432947 stop gained G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 29 1986 2016
dbSNP: rs1555393647
rs1555393647 		1.000 15 48412588 frameshift variant -/T delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 29 1986 2016
dbSNP: rs387906623
rs387906623 		0.882 0.120 15 48460258 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 29 1986 2016
dbSNP: rs869025411
rs869025411 		0.925 0.160 15 48432911 missense variant A/G snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 29 1986 2016
dbSNP: rs869025411
rs869025411 		0.925 0.160 15 48432911 missense variant A/G snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 29 1986 2016
dbSNP: rs727503057
rs727503057 		0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 13 1973 2015
dbSNP: rs111401431
rs111401431 		0.763 0.200 15 48468097 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 12 2000 2016
dbSNP: rs1555395663
rs1555395663 		0.925 0.160 15 48444648 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 11 1973 2008
dbSNP: rs1555399968
rs1555399968 		0.925 0.160 15 48508660 missense variant A/C snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 10 1973 2015
dbSNP: rs1566935517
rs1566935517 		0.925 0.160 15 48600195 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 10 1973 2012
dbSNP: rs397515786
rs397515786 		0.925 0.160 15 48488412 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 10 1973 2007
dbSNP: rs1064794282
rs1064794282 		0.925 0.160 15 48497316 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 9 2002 2018
dbSNP: rs140593
rs140593 		0.925 0.160 15 48489896 missense variant C/G;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 9 1995 2011
dbSNP: rs147195031
rs147195031 		0.882 0.160 15 48420780 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 9 1973 2016
dbSNP: rs1555397421
rs1555397421 		0.925 0.160 15 48470745 missense variant A/G;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 9 1973 2014
dbSNP: rs1555399271
rs1555399271 		0.925 0.160 15 48496177 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 9 1973 2015
dbSNP: rs1555405044
rs1555405044 		0.925 0.160 15 48600181 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 9 1973 2015
dbSNP: rs1566899500
rs1566899500 		0.925 0.160 15 48448773 missense variant C/A snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 9 1973 2010
dbSNP: rs794728240
rs794728240 		0.925 0.160 15 48445492 missense variant C/G;T snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 9 1973 2015
dbSNP: rs1060501021
rs1060501021 		0.925 0.160 15 48494210 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 8 2002 2015
dbSNP: rs1060501055
rs1060501055 		0.925 0.160 15 48421997 missense variant A/C snv
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 8 1973 2016
dbSNP: rs112728248
rs112728248 		0.925 0.160 15 48448812 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 8 1973 2012
dbSNP: rs140603
rs140603 		0.925 0.160 15 48503845 stop gained G/A;C;T snv 7.6E-04
CUI: C4707243
Disease: Familial thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection 		0.700 1.000 8 2000 2016
dbSNP: rs1555395486
rs1555395486 		0.925 0.160 15 48441835 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 8 1973 2015