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: rs116671518
rs116671518 		4 107189709 intron variant T/C snv 1.9E-02
CUI: C0149678
Disease: Epstein-Barr Virus Infections
Epstein-Barr Virus Infections 		Infections 0.700 1.000 1 2017 2017
dbSNP: rs4109346
rs4109346 		1.000 0.080 4 106967631 intron variant T/A snv 0.15
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs76067940
rs76067940 		1.000 0.080 4 107131838 intron variant C/T snv 2.5E-02
CUI: C0002170
Disease: Alopecia
Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2017 2017
dbSNP: rs77571736
rs77571736 		4 106943827 intron variant G/C snv 2.6E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs78311490
rs78311490 		0.827 0.080 4 106961892 intron variant A/G snv 6.3E-02
CUI: C0162311
Disease: Androgenetic Alopecia
Androgenetic Alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs78311490
rs78311490 		0.827 0.080 4 106961892 intron variant A/G snv 6.3E-02
CUI: C0029489
Disease: Other alopecia
Other alopecia 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs78311490
rs78311490 		0.827 0.080 4 106961892 intron variant A/G snv 6.3E-02
CUI: C4083212
Disease: Alopecia, Male Pattern
Alopecia, Male Pattern 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs78311490
rs78311490 		0.827 0.080 4 106961892 intron variant A/G snv 6.3E-02
CUI: C2678038
Disease: Alopecia, Androgenetic, 2
Alopecia, Androgenetic, 2 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs78311490
rs78311490 		0.827 0.080 4 106961892 intron variant A/G snv 6.3E-02
CUI: C2676272
Disease: Alopecia, Androgenetic, 3
Alopecia, Androgenetic, 3 		Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs78311490
rs78311490 		0.827 0.080 4 106961892 intron variant A/G snv 6.3E-02
CUI: C4049090
Disease: Alopecia, Androgenetic, 1
Alopecia, Androgenetic, 1 		0.700 1.000 1 2016 2016
dbSNP: rs1305420126
rs1305420126 		1.000 0.080 4 106924184 synonymous variant G/A snv 8.0E-06
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs17037102
rs17037102 		0.807 0.240 4 106924637 missense variant C/A;T snv 0.15
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs17037102
rs17037102 		0.807 0.240 4 106924637 missense variant C/A;T snv 0.15
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs17037102
rs17037102 		0.807 0.240 4 106924637 missense variant C/A;T snv 0.15
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs17037102
rs17037102 		0.807 0.240 4 106924637 missense variant C/A;T snv 0.15
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs17037102
rs17037102 		0.807 0.240 4 106924637 missense variant C/A;T snv 0.15
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs17037102
rs17037102 		0.807 0.240 4 106924637 missense variant C/A;T snv 0.15
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs419558
rs419558 		0.882 0.080 4 106922935 3 prime UTR variant C/T snv 0.29
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs419558
rs419558 		0.882 0.080 4 106922935 3 prime UTR variant C/T snv 0.29
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs419558
rs419558 		0.882 0.080 4 106922935 3 prime UTR variant C/T snv 0.29
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs447372
rs447372 		0.882 0.080 4 106932839 intron variant G/A snv 0.48
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs447372
rs447372 		0.882 0.080 4 106932839 intron variant G/A snv 0.48
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs447372
rs447372 		0.882 0.080 4 106932839 intron variant G/A snv 0.48
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2017 2017