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: rs121908537
rs121908537 		1.000 13 47988901 missense variant C/T snv
CUI: C2749864
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		0.800 1.000 4 2005 2013
dbSNP: rs121908538
rs121908538 		1.000 13 47954510 missense variant G/A snv 3.2E-05 1.4E-05
CUI: C2749864
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		0.800 1.000 4 2005 2013
dbSNP: rs397515462
rs397515462 		1.000 13 47968646 missense variant C/T snv
CUI: C2749864
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		0.800 1.000 4 2005 2013
dbSNP: rs1041070
rs1041070 		13 47931358 non coding transcript exon variant C/T snv 0.27
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs113994161
rs113994161 		1.000 13 47988540 splice donor variant C/T snv 1.2E-05
CUI: C2749864
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		0.700 0
dbSNP: rs1555256440
rs1555256440 		1.000 13 47954545 missense variant T/A snv
CUI: C2749864
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA)
MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) 		0.700 0
dbSNP: rs186364861
rs186364861 		0.882 0.120 13 48037798 missense variant G/A snv 9.1E-04 2.4E-04
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.030 1.000 3 2017 2019
dbSNP: rs121908538
rs121908538 		1.000 13 47954510 missense variant G/A snv 3.2E-05 1.4E-05
CUI: C0852733
Disease: Completed Suicide
Completed Suicide 		0.010 1.000 1 2018 2018
dbSNP: rs186364861
rs186364861 		0.882 0.120 13 48037798 missense variant G/A snv 9.1E-04 2.4E-04
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs186364861
rs186364861 		0.882 0.120 13 48037798 missense variant G/A snv 9.1E-04 2.4E-04
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs186364861
rs186364861 		0.882 0.120 13 48037798 missense variant G/A snv 9.1E-04 2.4E-04
CUI: C1961102
Disease: Precursor Cell Lymphoblastic Leukemia Lymphoma
Precursor Cell Lymphoblastic Leukemia Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs7320366
rs7320366 		1.000 0.040 13 47973332 missense variant A/G;T snv 8.0E-06; 0.75
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016