Source: BEFREE

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: rs760292725
rs760292725
SCO1
17 10681145 missense variant T/C snv
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.010 1.000 1 2013 2013