rs80356524, OPA3

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.
OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
CUI: C1833809
Disease: OPTIC ATROPHY AND CATARACT, AUTOSOMAL DOMINANT
4 0.882 0.200 19 45553777 missense variant C/T snv 0.800 1.000 1 2004 2004
3-Methylglutaconic aciduria type 3
CUI: C0574084
Disease: 3-Methylglutaconic aciduria type 3
13 0.882 0.200 19 45553777 missense variant C/T snv 0.700 0
Optic Atrophy
CUI: C0029124
Disease: Optic Atrophy
51 0.882 0.200 19 45553777 missense variant C/T snv 0.010 1.000 1 2010 2010