rs140948465, 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.
Neuronal Ceroid-Lipofuscinoses
CUI: C0027877
Disease: Neuronal Ceroid-Lipofuscinoses
74 0.925 0.120 4 127930800 missense variant G/A;T snv 4.0E-06; 8.0E-06 0.700 0
Ceroid Lipofuscinosis, Neuronal, 7
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
23 0.925 0.120 4 127930800 missense variant G/A;T snv 4.0E-06; 8.0E-06 0.800 1.000 7 2007 2012