Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs727502800
rs727502800
MFSD8
0.925 0.120 4 127921860 missense variant C/G snv
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		0.700 0
dbSNP: rs727502801
rs727502801
MFSD8
1.000 0.120 4 127932981 frameshift variant -/A ins 1.6E-05
CUI: C1838571
Disease: Ceroid Lipofuscinosis, Neuronal, 7
Ceroid Lipofuscinosis, Neuronal, 7 		0.700 0