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: rs1036477
rs1036477
0.882 0.040 15 48622729 intron variant A/G snv 0.24
CUI: C0340643
Disease: Dissection of aorta
Dissection of aorta
Cardiovascular Diseases 0.010 1.000 1 2015 2015