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: rs764264834
rs764264834
HMGCL
1.000 0.080 1 23810791 frameshift variant GA/- delins 1.2E-05 7.0E-06
CUI: C0268601
Disease: HMG CoA lyase deficiency
HMG CoA lyase deficiency 		0.700 1.000 1 2013 2013