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: rs2070673
rs2070673 		0.827 0.160 10 133527063 non coding transcript exon variant A/T snv 0.67
CUI: C4721532
Disease: Lymphoma, Non-Hodgkin, Familial
Lymphoma, Non-Hodgkin, Familial 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2480256
rs2480256 		1.000 0.080 10 133539010 3 prime UTR variant A/G;T snv 0.71
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2864987
rs2864987 		1.000 0.040 10 133535075 intron variant A/G snv 9.8E-02
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs3813867
rs3813867 		0.732 0.240 10 133526101 intron variant G/A;C snv
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs3813867
rs3813867 		0.732 0.240 10 133526101 intron variant G/A;C snv
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2011 2011
dbSNP: rs1329149
rs1329149 		0.925 0.080 10 133536297 intron variant T/C snv 0.73
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 1.000 2 2009 2012
dbSNP: rs1329149
rs1329149 		0.925 0.080 10 133536297 intron variant T/C snv 0.73
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 1.000 2 2009 2012
dbSNP: rs2031921
rs2031921 		1.000 0.040 10 133526369 non coding transcript exon variant T/A;C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs2031922
rs2031922 		1.000 0.040 10 133526589 non coding transcript exon variant T/C snv 0.13
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs2070676
rs2070676 		0.827 0.320 10 133537633 non coding transcript exon variant G/C snv 0.73
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2070676
rs2070676 		0.827 0.320 10 133537633 non coding transcript exon variant G/C snv 0.73
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2070677
rs2070677 		0.925 0.120 10 133537670 non coding transcript exon variant T/A;G snv
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs2070677
rs2070677 		0.925 0.120 10 133537670 non coding transcript exon variant T/A;G snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs3813867
rs3813867 		0.732 0.240 10 133526101 intron variant G/A;C snv
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs3813870
rs3813870 		1.000 0.040 10 133526466 non coding transcript exon variant A/G snv 6.4E-02
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs2031920
rs2031920 		0.695 0.240 10 133526341 non coding transcript exon variant C/T snv 3.1E-02
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 < 0.001 1 2013 2013
dbSNP: rs2031920
rs2031920 		0.695 0.240 10 133526341 non coding transcript exon variant C/T snv 3.1E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 < 0.001 1 2013 2013
dbSNP: rs3813867
rs3813867 		0.732 0.240 10 133526101 intron variant G/A;C snv
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2013 2013
dbSNP: rs3813867
rs3813867 		0.732 0.240 10 133526101 intron variant G/A;C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs2515641
rs2515641 		1.000 0.040 10 133537858 missense variant C/G;T snv
CUI: C0003504
Disease: Aortic Valve Insufficiency
Aortic Valve Insufficiency 		Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs6413432
rs6413432 		0.827 0.120 10 133535040 intron variant T/A snv 9.9E-02
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2012 2015
dbSNP: rs6413432
rs6413432 		0.827 0.120 10 133535040 intron variant T/A snv 9.9E-02
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2012 2015
dbSNP: rs6413432
rs6413432 		0.827 0.120 10 133535040 intron variant T/A snv 9.9E-02
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2012 2015
dbSNP: rs2031920
rs2031920 		0.695 0.240 10 133526341 non coding transcript exon variant C/T snv 3.1E-02
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2031920
rs2031920 		0.695 0.240 10 133526341 non coding transcript exon variant C/T snv 3.1E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015