Source: BEFREE

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: rs137852769
rs137852769
HADHA ; GAREM2
0.827 0.280 2 26195184 missense variant C/G snv 1.2E-03 1.0E-03
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.890 1.000 9 1994 2017
dbSNP: rs137852769
rs137852769
HADHA ; GAREM2
0.827 0.280 2 26195184 missense variant C/G snv 1.2E-03 1.0E-03
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.790 1.000 9 1994 2017
dbSNP: rs137852769
rs137852769
HADHA ; GAREM2
0.827 0.280 2 26195184 missense variant C/G snv 1.2E-03 1.0E-03
CUI: C0162739
Disease: HELLP Syndrome
HELLP Syndrome 		0.020 1.000 2 1999 2007
dbSNP: rs137852769
rs137852769
HADHA ; GAREM2
0.827 0.280 2 26195184 missense variant C/G snv 1.2E-03 1.0E-03
CUI: C0339383
Disease: Choroidal and/or chorioretinal disorder
Choroidal and/or chorioretinal disorder 		0.010 1.000 1 1998 1998
dbSNP: rs137852769
rs137852769
HADHA ; GAREM2
0.827 0.280 2 26195184 missense variant C/G snv 1.2E-03 1.0E-03
CUI: C0023895
Disease: Liver diseases
Liver diseases 		0.010 1.000 1 1999 1999