FBN1, fibrillin 1, 2200

N. diseases: 137; N. variants: 1044
Disease: Dissection of aorta ×
Source: CLINVAR ×
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: rs1057518809
rs1057518809 		0.925 0.160 15 48425795 missense variant T/C snv
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		Cardiovascular Diseases 0.700 0
dbSNP: rs1057518973
rs1057518973 		0.925 0.120 15 48596343 missense variant A/C;G snv
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		Cardiovascular Diseases 0.700 0
dbSNP: rs137854466
rs137854466 		0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		Cardiovascular Diseases 0.700 0
dbSNP: rs137854467
rs137854467 		0.790 0.280 15 48600217 missense variant G/A snv
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		Cardiovascular Diseases 0.700 0
dbSNP: rs727503057
rs727503057 		0.708 0.280 15 48505106 missense variant G/A snv 7.0E-06
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta 		Cardiovascular Diseases 0.700 0