Source: CURATED

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: rs137852772
rs137852772
HADHA
1.000 0.200 2 26209840 missense variant A/G snv
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.800 1.000 2 1994 1997
dbSNP: rs137852773
rs137852773
HADHA
1.000 0.200 2 26214516 missense variant A/T snv 4.0E-06
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.800 1.000 1 1998 1998
dbSNP: rs137852774
rs137852774
HADHA
0.925 0.200 2 26214447 missense variant A/G;T snv 4.0E-06; 8.0E-06
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.800 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: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.790 1.000 5 1994 2017
dbSNP: rs137852775
rs137852775
HADHA
0.925 0.200 2 26214490 stop gained G/A snv
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.700 1.000 6 1998 2013
dbSNP: rs1057516460
rs1057516460
HADHA
0.925 0.200 2 26204190 splice acceptor variant GATGCCTGCA/- delins
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 1.000 5 1995 2012
dbSNP: rs1057516460
rs1057516460
HADHA
0.925 0.200 2 26204190 splice acceptor variant GATGCCTGCA/- delins
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.700 1.000 5 1995 2012
dbSNP: rs1167218743
rs1167218743
HADHA ; GAREM2
0.925 0.200 2 26192309 splice donor variant C/A;G snv 7.0E-06
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 1.000 5 1995 2012
dbSNP: rs1057516417
rs1057516417
HADHA
0.925 0.200 2 26234216 splice donor variant C/T snv
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 1.000 4 1995 2012
dbSNP: rs1057516417
rs1057516417
HADHA
0.925 0.200 2 26234216 splice donor variant C/T snv
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.700 1.000 4 1995 2012
dbSNP: rs137852769
rs137852769
HADHA ; GAREM2
0.827 0.280 2 26195184 missense variant C/G snv 1.2E-03 1.0E-03
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		0.700 1.000 4 2002 2017
dbSNP: rs769580842
rs769580842
HADHA ; GAREM2
0.925 0.200 2 26193668 frameshift variant AT/- del 3.5E-05
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.700 1.000 4 2002 2018
dbSNP: rs781205883
rs781205883
HADHA
1.000 0.200 2 26236891 frameshift variant GAGAT/- delins 8.0E-06 7.0E-06
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 1.000 4 1999 2012
dbSNP: rs781222705
rs781222705
HADHA
0.925 0.200 2 26238931 splice region variant T/C snv 5.2E-05
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 1.000 4 1995 2016
dbSNP: rs781222705
rs781222705
HADHA
0.925 0.200 2 26238931 splice region variant T/C snv 5.2E-05
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.700 1.000 4 1995 2016
dbSNP: rs137852774
rs137852774
HADHA
0.925 0.200 2 26214447 missense variant A/G;T snv 4.0E-06; 8.0E-06
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.700 1.000 3 1998 2017
dbSNP: rs769580842
rs769580842
HADHA ; GAREM2
0.925 0.200 2 26193668 frameshift variant AT/- del 3.5E-05
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 1.000 3 2002 2003
dbSNP: rs786204607
rs786204607
HADHA
1.000 0.200 2 26215149 missense variant G/A snv
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 1.000 3 2009 2012
dbSNP: rs137852770
rs137852770
HADHA
0.925 0.200 2 26204150 stop gained G/A snv 7.0E-06
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.700 1.000 2 1995 1999
dbSNP: rs137852771
rs137852771
HADHA ; GAREM2
0.925 0.200 2 26194581 stop gained G/A snv 2.4E-05
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 1.000 2 1996 2016
dbSNP: rs137852771
rs137852771
HADHA ; GAREM2
0.925 0.200 2 26194581 stop gained G/A snv 2.4E-05
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.700 1.000 2 1996 2016
dbSNP: rs147103714
rs147103714
HADHA
1.000 0.200 2 26238957 stop gained G/A;T snv 8.0E-06; 6.4E-05
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.700 1.000 2 2011 2011
dbSNP: rs1553316176
rs1553316176
HADHA
1.000 0.200 2 26239139 frameshift variant A/- del
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.700 1.000 2 2004 2011
dbSNP: rs772683361
rs772683361
HADHA
1.000 0.200 2 26230190 splice donor variant A/G snv 1.6E-05
CUI: C3711645
Disease: Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 		0.700 1.000 2 2011 2015