rs724159970, 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 127921733 stop gained C/A snv 4.0E-06 7.0E-06 0.700 0
MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
CUI: C4015371
Disease: MACULAR DYSTROPHY WITH CENTRAL CONE INVOLVEMENT
4 0.925 0.120 4 127921733 stop gained C/A snv 4.0E-06 7.0E-06 0.700 0