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: rs149968577
rs149968577 		6 32181364 stop gained G/A;C snv 1.0E-04
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2001 2001
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0003864
Disease: Arthritis
Arthritis 		Musculoskeletal Diseases 0.010 1.000 1 2002 2002
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2005 2005
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0022658
Disease: Kidney Diseases
Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2005 2005
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.020 0.500 2 2005 2007
dbSNP: rs3134940
rs3134940 		0.925 0.200 6 32182039 intron variant T/C snv 0.13 0.14
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: rs754141936
rs754141936 		0.925 0.080 6 32182641 missense variant G/C snv 4.1E-06 1.4E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs754141936
rs754141936 		0.925 0.080 6 32182641 missense variant G/C snv 4.1E-06 1.4E-05
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2007 2007
dbSNP: rs900321363
rs900321363 		0.925 0.080 6 32183616 synonymous variant C/T snv 2.1E-05
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2007 2007
dbSNP: rs900321363
rs900321363 		0.925 0.080 6 32183616 synonymous variant C/T snv 2.1E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs1800624
rs1800624 		0.658 0.480 6 32184610 upstream gene variant A/G;T snv
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2008 2010
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0002395
Disease: Alzheimer's Disease
Alzheimer's Disease 		Nervous System Diseases; Mental Disorders 0.020 1.000 2 2010 2010
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C3160731
Disease: Pulmonary function (finding)
Pulmonary function (finding) 		0.700 1.000 2 2010 2010
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0231921
Disease: Pulmonary function
Pulmonary function 		0.700 1.000 2 2010 2010
dbSNP: rs1035798
rs1035798 		1.000 0.040 6 32183445 splice region variant G/A snv 0.24 0.19
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		Skin and Connective Tissue Diseases 0.700 1.000 1 2010 2010
dbSNP: rs1800624
rs1800624 		0.658 0.480 6 32184610 upstream gene variant A/G;T snv
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1800625
rs1800625 		0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15
CUI: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2010 2010
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0947751
Disease: Vascular inflammations
Vascular inflammations 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.710 1.000 3 2007 2011
dbSNP: rs2070600
rs2070600 		0.561 0.760 6 32183666 missense variant C/T snv 5.3E-02 3.6E-02
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.020 1.000 2 1999 2011
dbSNP: rs1800625
rs1800625 		0.641 0.680 6 32184665 upstream gene variant A/G snv 0.15
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3131300
rs3131300 		1.000 0.120 6 32184157 non coding transcript exon variant A/G snv 0.14 0.14
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2011 2011