rs149396611, FBLN5

N. diseases: 4
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 0.851 0.120 14 91883017 missense variant C/T snv 2.6E-04 2.5E-04 0.700 1.000 7 2002 2010
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
CUI: C4225406
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
12 0.851 0.120 14 91883017 missense variant C/T snv 2.6E-04 2.5E-04 0.700 1.000 6 2004 2013
Cutis Laxa
CUI: C0010495
Disease: Cutis Laxa
21 0.851 0.120 14 91883017 missense variant C/T snv 2.6E-04 2.5E-04 0.020 1.000 2 2006 2010
Age related macular degeneration
CUI: C0242383
Disease: Age related macular degeneration
663 0.851 0.120 14 91883017 missense variant C/T snv 2.6E-04 2.5E-04 0.010 1.000 1 2010 2010