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: rs121964998
rs121964998
HMGCL
1.000 0.080 1 23804441 missense variant C/T snv
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.800 1.000 0 1996 2009