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: rs890995574
rs890995574
HMGCL
1.000 0.080 1 23816737 stop gained G/A snv
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 1.000 1 2001 2001