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: rs1409716731
rs1409716731
HMGCL ; LOC105376861
1.000 0.080 1 23825389 frameshift variant C/- del 2.1E-05
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 1.000 2 2003 2017