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: rs587777583
rs587777583 		1.000 6 30918886 missense variant G/A snv
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.800 1.000 2 2014 2014
dbSNP: rs587777584
rs587777584 		1.000 6 30921976 missense variant C/A snv 4.1E-06
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.800 1.000 2 2014 2014
dbSNP: rs587777585
rs587777585 		0.882 6 30918851 missense variant C/G;T snv 2.4E-05
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.800 1.000 2 2014 2014
dbSNP: rs139515727
rs139515727 		1.000 6 30915985 missense variant C/T snv 3.2E-05 1.0E-04
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 6 2011 2017
dbSNP: rs587777585
rs587777585 		0.882 6 30918851 missense variant C/G;T snv 2.4E-05
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 6 2011 2017
dbSNP: rs587777585
rs587777585 		0.882 6 30918851 missense variant C/G;T snv 2.4E-05
CUI: C0026650
Disease: Movement Disorders
Movement Disorders 		Nervous System Diseases 0.700 1.000 6 2011 2017
dbSNP: rs1264302
rs1264302 		1.000 0.120 6 30914857 synonymous variant C/T snv 0.32 0.28
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs1264303
rs1264303 		1.000 0.120 6 30914736 5 prime UTR variant A/G snv 0.28
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs2074506
rs2074506 		1.000 0.120 6 30922706 missense variant G/T snv 0.32 0.28
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs753725
rs753725 		1.000 0.120 6 30923094 intron variant T/C snv 0.61 0.51
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 2 2007 2009
dbSNP: rs114274879
rs114274879 		1.000 0.080 6 30914638 5 prime UTR variant C/T snv
CUI: C0149782
Disease: Squamous cell carcinoma of lung
Squamous cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.700 1.000 1 2017 2017
dbSNP: rs3218822
rs3218822 		1.000 0.040 6 30912559 intron variant T/C snv 1.9E-02
CUI: C0042900
Disease: Vitiligo
Vitiligo 		Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs4678
rs4678 		0.925 0.200 6 30926164 missense variant G/A snv 0.14 0.15
CUI: C0026896
Disease: Myasthenia Gravis
Myasthenia Gravis 		Neoplasms; Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs4678
rs4678 		0.925 0.200 6 30926164 missense variant G/A snv 0.14 0.15
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs753725
rs753725 		1.000 0.120 6 30923094 intron variant T/C snv 0.61 0.51
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 1 2019 2019
dbSNP: rs139515727
rs139515727 		1.000 6 30915985 missense variant C/T snv 3.2E-05 1.0E-04
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.700 0
dbSNP: rs1554268077
rs1554268077 		1.000 6 30920731 inframe deletion GGG/- delins
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.700 0
dbSNP: rs775439829
rs775439829 		1.000 6 30920670 missense variant G/A;C snv 7.0E-06
CUI: C4014660
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 20 		0.700 0
dbSNP: rs114596632
rs114596632 		0.882 0.080 6 30912210 non coding transcript exon variant C/T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs114596632
rs114596632 		0.882 0.080 6 30912210 non coding transcript exon variant C/T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs114596632
rs114596632 		0.882 0.080 6 30912210 non coding transcript exon variant C/T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1157637439
rs1157637439 		0.882 0.120 6 30920187 missense variant A/G snv
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1157637439
rs1157637439 		0.882 0.120 6 30920187 missense variant A/G snv
CUI: C0001125
Disease: Acidosis, Lactic
Acidosis, Lactic 		Nutritional and Metabolic Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1157637439
rs1157637439 		0.882 0.120 6 30920187 missense variant A/G snv
CUI: C4551472
Disease: Hypertrophic obstructive cardiomyopathy
Hypertrophic obstructive cardiomyopathy 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs1157637439
rs1157637439 		0.882 0.120 6 30920187 missense variant A/G snv
CUI: C0031190
Disease: Persistent Fetal Circulation Syndrome
Persistent Fetal Circulation Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2018 2018