PDK4, pyruvate dehydrogenase kinase 4, 5166

N. diseases: 85; N. variants: 5
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs10085637
rs10085637 		1.000 0.040 7 95596501 5 prime UTR variant T/C;G snv 0.40
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs10247649
rs10247649 		0.925 0.080 7 95586935 non coding transcript exon variant A/G snv 0.43
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs10247649
rs10247649 		0.925 0.080 7 95586935 non coding transcript exon variant A/G snv 0.43
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12668651
rs12668651 		1.000 0.040 7 95589126 intron variant T/C snv 0.29
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2301630
rs2301630 		1.000 0.040 7 95591957 intron variant C/T snv 0.50 0.51
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs3779478
rs3779478 		1.000 0.040 7 95593507 intron variant A/G snv 7.4E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012