FBN2, fibrillin 2, 2201

N. diseases: 211; N. variants: 42
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: rs154001
rs154001
1.000 0.040 5 128349443 missense variant C/G;T snv 0.73
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
Eye Diseases 0.010 1.000 1 2014 2014