rs267607235, 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 1.000 0.120 4 127921639 missense variant G/A snv 2.0E-05 7.0E-06 0.800 1.000 7 2007 2012
Seizures
CUI: C0036572
Disease: Seizures
553 1.000 0.120 4 127921639 missense variant G/A snv 2.0E-05 7.0E-06 0.700 1.000 3 2009 2012