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: rs397514610
rs397514610 		0.851 0.120 6 5369001 missense variant A/G snv
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.800 1.000 3 2012 2018
dbSNP: rs397514611
rs397514611 		1.000 6 5545261 missense variant T/C snv 1.2E-05
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.800 1.000 2 2012 2012
dbSNP: rs397514612
rs397514612 		1.000 6 5613275 missense variant A/T snv 1.6E-05 7.0E-06
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.800 1.000 2 2012 2012
dbSNP: rs145555213
rs145555213 		0.925 0.160 6 5368994 missense variant G/A;T snv 4.0E-06; 4.0E-06
CUI: C4310750
Disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE 		0.800 1.000 1 2016 2016
dbSNP: rs9328321
rs9328321 		1.000 0.080 6 5600205 intron variant G/A;C snv
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.800 1.000 1 2013 2013
dbSNP: rs11243033
rs11243033 		1.000 0.040 6 5736510 intron variant G/C snv 0.48
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1298860043
rs1298860043 		1.000 6 5545179 splice acceptor variant G/A;T snv 4.0E-06
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.700 1.000 1 2016 2016
dbSNP: rs146988468
rs146988468 		1.000 6 5369037 missense variant C/A;T snv 8.8E-05 5.6E-05
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.700 1.000 1 2016 2016
dbSNP: rs1554169353
rs1554169353 		1.000 6 5368973 missense variant C/G snv
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.700 1.000 1 2016 2016
dbSNP: rs2145980
rs2145980 		1.000 0.040 6 5736889 intron variant C/T snv 0.60
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs433295
rs433295 		1.000 0.040 6 5475252 intron variant A/G snv 0.86
CUI: C0017612
Disease: Glaucoma, Open-Angle
Glaucoma, Open-Angle 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs4959355
rs4959355 		1.000 0.040 6 5736979 intron variant G/C snv 0.62
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs6906241
rs6906241 		6 5262479 intron variant A/G snv 0.40
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2019 2019
dbSNP: rs6906241
rs6906241 		6 5262479 intron variant A/G snv 0.40
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2019 2019
dbSNP: rs6937985
rs6937985 		1.000 0.040 6 5734001 intron variant A/G snv 2.9E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs746746116
rs746746116 		1.000 6 5545200 missense variant G/A;C snv 8.0E-06
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.700 1.000 1 2017 2017
dbSNP: rs749588235
rs749588235 		1.000 6 5369031 missense variant C/T snv 2.4E-05 3.5E-05
CUI: C4310750
Disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2017 2017
dbSNP: rs751459058
rs751459058 		0.925 6 5613185 missense variant C/T snv 1.4E-04 1.0E-04
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.700 1.000 1 2017 2017
dbSNP: rs764427452
rs764427452 		0.851 0.120 6 5545248 missense variant G/A;T snv 7.6E-05
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.700 1.000 1 2014 2014
dbSNP: rs770035560
rs770035560 		1.000 6 5368823 missense variant C/G snv 4.0E-06
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.700 1.000 1 2016 2016
dbSNP: rs775690041
rs775690041 		1.000 6 5771328 missense variant C/T snv 1.2E-05 2.1E-05
CUI: C4310750
Disease: SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE
SPASTIC PARAPLEGIA 77, AUTOSOMAL RECESSIVE 		0.700 1.000 1 2015 2015
dbSNP: rs9504502
rs9504502 		1.000 0.040 6 5741203 intron variant G/A snv 0.21
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs1407198979
rs1407198979 		1.000 6 5613266 missense variant T/A;C;G snv 4.0E-06; 4.0E-06
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.700 0
dbSNP: rs1554169280
rs1554169280 		1.000 6 5368762 missense variant C/G snv
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.700 0
dbSNP: rs1561990337
rs1561990337 		1.000 6 5369027 missense variant A/G snv
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14 		0.700 0