Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs113001196
rs113001196
FBN1
0.882 0.160 15 48432947 stop gained G/A snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 29 1986 2016
dbSNP: rs113001196
rs113001196
FBN1
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
FBN1
0.882 0.160 15 48432947 stop gained G/A snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 29 1986 2016
dbSNP: rs387906623
rs387906623
FBN1
0.882 0.120 15 48460258 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 29 1986 2016
dbSNP: rs387906623
rs387906623
FBN1
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
FBN1
0.925 0.160 15 48432911 missense variant A/G snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 29 1986 2016
dbSNP: rs869025411
rs869025411
FBN1
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: rs869025411
rs869025411
FBN1
0.925 0.160 15 48432911 missense variant A/G snv
CUI: C1849265
Disease: Overgrowth
Overgrowth 		0.700 1.000 29 1986 2016
dbSNP: rs727503057
rs727503057
FBN1
0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 16 1973 2015
dbSNP: rs727503054
rs727503054
FBN1
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 14 1999 2016
dbSNP: rs111401431
rs111401431
FBN1
0.763 0.200 15 48468097 missense variant G/A snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.800 1.000 13 1996 2017
dbSNP: rs193922219
rs193922219
FBN1
0.763 0.280 15 48446701 splice region variant C/A;T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 13 1995 2014
dbSNP: rs727503057
rs727503057
FBN1
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
FBN1
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
FBN1
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: rs1555395663
rs1555395663
FBN1
0.925 0.160 15 48444648 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 11 1973 2008
dbSNP: rs1555399968
rs1555399968
FBN1
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: rs1555399968
rs1555399968
FBN1
0.925 0.160 15 48508660 missense variant A/C snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 10 1973 2015
dbSNP: rs1566935517
rs1566935517
FBN1
0.925 0.160 15 48600195 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 10 1973 2012
dbSNP: rs1566935517
rs1566935517
FBN1
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: rs193922228
rs193922228
FBN1
0.763 0.200 15 48430736 missense variant A/G snv 7.0E-06
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 10 1999 2016
dbSNP: rs397515786
rs397515786
FBN1
0.925 0.160 15 48488412 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 10 1973 2007
dbSNP: rs397515786
rs397515786
FBN1
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
FBN1
0.925 0.160 15 48497316 missense variant C/T snv
CUI: C0024796
Disease: Marfan Syndrome
Marfan Syndrome 		0.700 1.000 9 2002 2018
dbSNP: rs1064794282
rs1064794282
FBN1
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