rs80338766, 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.
Cutis Laxa, Autosomal Recessive, Type I
CUI: C0268351
Disease: Cutis Laxa, Autosomal Recessive, Type I
5 0.882 0.120 14 91887283 missense variant A/G snv 0.800 1.000 7 2002 2010
Cutis Laxa
CUI: C0010495
Disease: Cutis Laxa
21 0.882 0.120 14 91887283 missense variant A/G snv 0.030 1.000 3 2006 2010
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
663 0.882 0.120 14 91887283 missense variant A/G snv 0.010 1.000 1 2006 2006