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: 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: 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: 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: 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: rs1040811473
rs1040811473 		1.000 0.040 7 107906311 frameshift variant A/-;AA delins
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1057516698
rs1057516698 		1.000 0.040 7 107893272 stop gained C/T snv
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1057517214
rs1057517214 		1.000 0.040 7 107902346 frameshift variant -/A delins
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs111257462
rs111257462 		1.000 0.040 7 107891290 splice donor variant G/A;C snv
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554398193
rs1554398193 		1.000 0.040 7 107901818 splice donor variant G/A snv
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554398264
rs1554398264 		1.000 0.040 7 107902324 splice acceptor variant G/A snv
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554398461
rs1554398461 		1.000 0.040 7 107903476 splice acceptor variant A/G snv
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554398624
rs1554398624 		1.000 0.040 7 107904956 splice acceptor variant AG/T delins
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1554398625
rs1554398625 		1.000 0.040 7 107904964 frameshift variant A/- delins
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		Hemic and Lymphatic Diseases 0.700 0