Source: BEFREE

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: rs121964990
rs121964990
DLD
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 		0.810 1.000 1 1993 2014
dbSNP: rs121964992
rs121964992
DLD
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 		0.810 1.000 1 1993 2016
dbSNP: rs397514649
rs397514649
DLD
1.000 0.040 7 107919071 missense variant A/T snv
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.810 1.000 1 1993 2009
dbSNP: rs121964990
rs121964990
DLD
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 		0.010 1.000 1 2013 2013
dbSNP: rs1284728113
rs1284728113
DLD
1.000 0.120 7 107916820 missense variant C/T snv 4.0E-06
CUI: C0751748
Disease: Nonketotic Hyperglycinemia
Nonketotic Hyperglycinemia 		0.010 1.000 1 2018 2018
dbSNP: rs1383147053
rs1383147053
DLD
0.882 0.120 7 107901762 missense variant G/A snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 1.000 1 2018 2018
dbSNP: rs1383147053
rs1383147053
DLD
0.882 0.120 7 107901762 missense variant G/A snv
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 1.000 1 2018 2018
dbSNP: rs1383147053
rs1383147053
DLD
0.882 0.120 7 107901762 missense variant G/A snv
CUI: C0020615
Disease: Hypoglycemia
Hypoglycemia 		0.010 1.000 1 2005 2005
dbSNP: rs1383147053
rs1383147053
DLD
0.882 0.120 7 107901762 missense variant G/A snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 1.000 1 2005 2005
dbSNP: rs151191365
rs151191365
DLD
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: rs372032595
rs372032595
DLD
0.925 0.080 7 107904960 missense variant T/G snv 4.0E-06
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 1.000 1 2016 2016
dbSNP: rs372032595
rs372032595
DLD
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
DLD
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
dbSNP: rs750449027
rs750449027
DLD
1.000 0.040 7 107906361 missense variant T/C snv 1.6E-05
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.010 1.000 1 2018 2018
dbSNP: rs763452636
rs763452636
DLD
1.000 7 107905413 missense variant C/G snv 8.0E-06
CUI: C4020732
Disease: Mitochondrial abnormalities
Mitochondrial abnormalities 		0.010 1.000 1 2007 2007
dbSNP: rs778898713
rs778898713
DLD
1.000 0.040 7 107919019 missense variant G/A snv 4.0E-06
CUI: C0268193
Disease: NADH cytochrome B5 reductase deficiency
NADH cytochrome B5 reductase deficiency 		0.010 1.000 1 1997 1997
dbSNP: rs914629774
rs914629774
DLD
0.925 0.120 7 107893225 missense variant A/C;G snv 4.0E-06; 4.0E-06
CUI: C1281300
Disease: Vascular degeneration
Vascular degeneration 		0.010 1.000 1 2018 2018
dbSNP: rs914629774
rs914629774
DLD
0.925 0.120 7 107893225 missense variant A/C;G snv 4.0E-06; 4.0E-06
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.010 1.000 1 2018 2018