FBN1, fibrillin 1, 2200

N. diseases: 552; N. variants: 1105
Disease: Congenital aneurysm of ascending aorta ×
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: rs1555394195
rs1555394195 		0.925 0.160 15 48421601 stop gained G/T snv
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		Cardiovascular Diseases 0.700 0
dbSNP: rs1566894230
rs1566894230 		1.000 0.040 15 48430676 missense variant C/A;G snv
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		Cardiovascular Diseases 0.700 0
dbSNP: rs193922205
rs193922205 		1.000 0.040 15 48468527 missense variant A/G;T snv 4.0E-06
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		Cardiovascular Diseases 0.700 0
dbSNP: rs765692335
rs765692335 		1.000 0.040 15 48534129 stop gained G/C;T snv 4.0E-06
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		Cardiovascular Diseases 0.700 0
dbSNP: rs794728319
rs794728319 		0.851 0.160 15 48427731 frameshift variant AT/- del
CUI: C0345050
Disease: Congenital aneurysm of ascending aorta
Congenital aneurysm of ascending aorta 		Cardiovascular Diseases 0.700 0