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: rs751995154
rs751995154
ACADVL ; MIR324
1.000 0.200 17 7224011 missense variant G/A;C snv 2.8E-05 3.5E-05
CUI: C3887523
Disease: Very long chain acyl-CoA dehydrogenase deficiency
Very long chain acyl-CoA dehydrogenase deficiency 		0.700 1.000 6 2003 2015
dbSNP: rs751995154
rs751995154
ACADVL ; MIR324
1.000 0.200 17 7224011 missense variant G/A;C snv 2.8E-05 3.5E-05
CUI: C0026848
Disease: Myopathy
Myopathy 		0.700 0
dbSNP: rs751995154
rs751995154
ACADVL ; MIR324
1.000 0.200 17 7224011 missense variant G/A;C snv 2.8E-05 3.5E-05
CUI: C0035410
Disease: Rhabdomyolysis
Rhabdomyolysis 		0.700 0