Source: ALL

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: rs138966725
rs138966725
HADHA ; GAREM2
1.000 0.200 2 26191498 missense variant G/A;T snv 2.0E-04 1.6E-04
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 0
dbSNP: rs1456890163
rs1456890163
HADHA ; HADHB
1.000 0.200 2 26244572 frameshift variant -/GCCAATCGCCCGGCAGGCC delins
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 0
dbSNP: rs267606859
rs267606859
HADHB
1.000 0.200 2 26285546 missense variant T/A;C;G snv 4.0E-06; 1.6E-05; 4.0E-06
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 0
dbSNP: rs751772298
rs751772298
HADHB
1.000 0.200 2 26280021 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 0
dbSNP: rs764623179
rs764623179
HADHB
0.925 0.240 2 26284908 missense variant C/G;T snv 4.0E-06
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 0
dbSNP: rs776172237
rs776172237
HADHB
1.000 0.200 2 26269998 splice donor variant G/A snv 4.0E-06 1.4E-05
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 0
dbSNP: rs780351691
rs780351691
HADHB
1.000 0.200 2 26263451 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 0
dbSNP: rs786205088
rs786205088
HADHA
0.925 0.200 2 26238933 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 0
dbSNP: rs886037844
rs886037844
HADHB
1.000 0.200 2 26277074 frameshift variant -/T delins
CUI: C1969443
Disease: Trifunctional Protein Deficiency With Myopathy And Neuropathy
Trifunctional Protein Deficiency With Myopathy And Neuropathy 		0.700 0