rs724159971, MFSD8

N. diseases: 2
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.
Ceroid Lipofuscinosis, Neuronal, 7
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
23 0.925 0.120 4 127920743 stop gained G/A snv 2.0E-05 2.8E-05 0.700 1.000 3 2009 2018
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
CUI: C4015371
Disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
4 0.925 0.120 4 127920743 stop gained G/A snv 2.0E-05 2.8E-05 0.700 0