DLD, dihydrolipoamide dehydrogenase, 1738

N. diseases: 190; N. variants: 42
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: rs121964990
rs121964990 		0.925 0.160 7 107915506 missense variant G/C;T snv 4.0E-06; 3.3E-04
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.810 1.000 20 1993 2014
dbSNP: rs121964992
rs121964992 		1.000 0.040 7 107917349 missense variant G/A snv 9.6E-05 5.6E-05
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.810 1.000 18 1993 2016
dbSNP: rs121964987
rs121964987 		1.000 0.040 7 107902340 missense variant A/G snv
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.800 1.000 12 1993 2009
dbSNP: rs121964988
rs121964988 		1.000 0.040 7 107919098 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.800 1.000 12 1993 2009
dbSNP: rs121964989
rs121964989 		1.000 0.040 7 107919212 missense variant A/G snv
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.800 1.000 12 1993 2009
dbSNP: rs121964991
rs121964991 		1.000 0.040 7 107917404 missense variant T/C snv
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.800 1.000 12 1993 2009
dbSNP: rs121964993
rs121964993 		1.000 0.040 7 107917307 missense variant A/G snv 4.0E-06
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.800 1.000 12 1993 2009
dbSNP: rs397514649
rs397514649 		1.000 0.040 7 107919071 missense variant A/T snv
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.810 1.000 12 1993 2009
dbSNP: rs397514650
rs397514650 		1.000 0.040 7 107919079 missense variant A/G snv
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.800 1.000 12 1993 2009
dbSNP: rs397514651
rs397514651 		1.000 0.040 7 107901759 missense variant T/C snv
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.800 1.000 12 1993 2009
dbSNP: rs1328820332
rs1328820332 		1.000 0.040 7 107915697 splice donor variant G/A snv 7.0E-06
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.700 1.000 2 1996 1999
dbSNP: rs1554400699
rs1554400699 		1.000 0.040 7 107919055 frameshift variant G/- delins
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.700 1.000 2 1992 1995
dbSNP: rs1554400704
rs1554400704 		1.000 0.040 7 107919064 frameshift variant TGTG/- del
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.700 1.000 2 1992 1995
dbSNP: rs1554400713
rs1554400713 		1.000 0.040 7 107919079 frameshift variant AG/- delins
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.700 1.000 2 1992 1995
dbSNP: rs121964990
rs121964990 		0.925 0.160 7 107915506 missense variant G/C;T snv 4.0E-06; 3.3E-04
CUI: C3492932
Disease: Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency
Lactic Acidosis, Congenital Infantile, Due To Lad Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1284728113
rs1284728113 		1.000 0.120 7 107916820 missense variant C/T snv 4.0E-06
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1383147053
rs1383147053 		0.882 0.120 7 107901762 missense variant G/A snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs1383147053
rs1383147053 		0.882 0.120 7 107901762 missense variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2005 2005
dbSNP: rs1383147053
rs1383147053 		0.882 0.120 7 107901762 missense variant G/A snv
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2005 2005
dbSNP: rs1383147053
rs1383147053 		0.882 0.120 7 107901762 missense variant G/A snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs151191365
rs151191365 		1.000 7 107893213 missense variant A/G;T snv 4.8E-05; 4.0E-06
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		0.010 1.000 1 2007 2007
dbSNP: rs1554396895
rs1554396895 		1.000 0.040 7 107893265 frameshift variant C/- del
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.700 1.000 1 1999 1999
dbSNP: rs1554396908
rs1554396908 		1.000 0.040 7 107893279 splice donor variant G/T snv
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs372032595
rs372032595 		0.925 0.080 7 107904960 missense variant T/G snv 4.0E-06
CUI: C1608408
Disease: Malignant transformation
Malignant transformation 		0.010 1.000 1 2016 2016
dbSNP: rs372032595
rs372032595 		0.925 0.080 7 107904960 missense variant T/G snv 4.0E-06
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2016 2016