rs121434303, FBLN5

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
12 0.882 0.120 14 91870336 missense variant C/T snv 0.800 1.000 4 2004 2010
Cutis Laxa
CUI: C0010495
Disease: Cutis Laxa
21 0.882 0.120 14 91870336 missense variant C/T snv 0.020 1.000 2 2006 2010
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
663 0.882 0.120 14 91870336 missense variant C/T snv 0.010 1.000 1 2006 2006