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: rs751557097
rs751557097
CPT2
1 53213431 missense variant G/C snv 2.8E-05
CUI: C0085584
Disease: Encephalopathies
Encephalopathies 		0.010 1.000 1 2008 2008