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: rs763494292
rs763494292
HMGCL
0.925 0.080 1 23820545 stop gained C/A snv 4.8E-05 6.3E-05
CUI: C1291557
Disease: Deficiency of lyase
Deficiency of lyase 		0.010 1.000 1 2004 2004