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: rs104894632
rs104894632 		0.925 0.200 17 64477929 missense variant C/T snv
CUI: C1864668
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.800 1.000 1 2006 2006
dbSNP: rs113252144
rs113252144 		17 64487814 intron variant C/T snv 4.9E-02
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1427463
rs1427463 		17 64496464 missense variant C/A;T snv 4.0E-06; 0.15 0.29
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2012 2012
dbSNP: rs17650301
rs17650301 		0.925 0.120 17 64483156 intron variant A/C snv 0.23
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2019 2019
dbSNP: rs3744409
rs3744409 		17 64496295 intron variant A/G snv 0.29
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2012 2012
dbSNP: rs886037843
rs886037843 		0.882 0.040 17 64496425 missense variant G/A snv 7.0E-06
CUI: C0162557
Disease: Liver Failure, Acute
Liver Failure, Acute 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs9905016
rs9905016 		1.000 0.120 17 64497225 upstream gene variant T/C snv 0.29
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2012 2012
dbSNP: rs1568079613
rs1568079613 		1.000 0.200 17 64477857 frameshift variant AA/- delins
CUI: C1864668
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs397514659
rs397514659 		1.000 0.200 17 64492970 missense variant G/C snv
CUI: C1864668
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs563130304
rs563130304 		1.000 0.200 17 64477864 missense variant C/T snv 2.0E-04 4.9E-05
CUI: C1864668
Disease: Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 4 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.700 0
dbSNP: rs104894632
rs104894632 		0.925 0.200 17 64477929 missense variant C/T snv
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs17650301
rs17650301 		0.925 0.120 17 64483156 intron variant A/C snv 0.23
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs17650301
rs17650301 		0.925 0.120 17 64483156 intron variant A/C snv 0.23
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs17850455
rs17850455 		1.000 0.200 17 64480334 missense variant C/G snv 1.0E-02 1.0E-02
CUI: C0162674
Disease: Chronic progressive external ophthalmoplegia
Chronic progressive external ophthalmoplegia 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Eye Diseases; Musculoskeletal Diseases; Nervous System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs886037843
rs886037843 		0.882 0.040 17 64496425 missense variant G/A snv 7.0E-06
CUI: C0085605
Disease: Liver Failure
Liver Failure 		Digestive System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs886037843
rs886037843 		0.882 0.040 17 64496425 missense variant G/A snv 7.0E-06
CUI: C0342782
Disease: Depletion of mitochondrial DNA
Depletion of mitochondrial DNA 		0.010 1.000 1 2018 2018
dbSNP: rs9905016
rs9905016 		1.000 0.120 17 64497225 upstream gene variant T/C snv 0.29
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs9905016
rs9905016 		1.000 0.120 17 64497225 upstream gene variant T/C snv 0.29
CUI: C0023532
Disease: Leukoplakia, Oral
Leukoplakia, Oral 		Pathological Conditions, Signs and Symptoms; Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs9905016
rs9905016 		1.000 0.120 17 64497225 upstream gene variant T/C snv 0.29
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2016 2016