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: rs202110856
rs202110856 		0.790 0.080 5 96794169 intron variant -/C delins 2.1E-05
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2015 2015
dbSNP: rs202110856
rs202110856 		0.790 0.080 5 96794169 intron variant -/C delins 2.1E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs202110856
rs202110856 		0.790 0.080 5 96794169 intron variant -/C delins 2.1E-05
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs202110856
rs202110856 		0.790 0.080 5 96794169 intron variant -/C delins 2.1E-05
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs202110856
rs202110856 		0.790 0.080 5 96794169 intron variant -/C delins 2.1E-05
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2015 2015
dbSNP: rs202110856
rs202110856 		0.790 0.080 5 96794169 intron variant -/C delins 2.1E-05
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2015 2015
dbSNP: rs202110856
rs202110856 		0.790 0.080 5 96794169 intron variant -/C delins 2.1E-05
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2015 2015
dbSNP: rs2032890
rs2032890 		1.000 0.040 5 96785448 non coding transcript exon variant A/C;T snv
CUI: C0042165
Disease: Anterior uveitis
Anterior uveitis 		Eye Diseases 0.700 1.000 1 2015 2015
dbSNP: rs27432
rs27432 		0.925 0.040 5 96783569 intron variant A/C;G snv
CUI: C0263361
Disease: Psoriasis vulgaris
Psoriasis vulgaris 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs39841
rs39841 		1.000 0.040 5 96784466 intron variant G/A;C snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0009447
Disease: Common Variable Immunodeficiency
Common Variable Immunodeficiency 		Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C4014795
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 1 		0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C3495559
Disease: Juvenile arthritis
Juvenile arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0920350
Disease: Autoimmune thyroiditis
Autoimmune thyroiditis 		Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C4310768
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2
AUTOIMMUNE DISEASE, MULTISYSTEM, INFANTILE-ONSET, 2 		0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0004364
Disease: Autoimmune Diseases
Autoimmune Diseases 		Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
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 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C3150797
Disease: AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6
AUTOIMMUNE DISEASE, SUSCEPTIBILITY TO, 6 		0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs4869313
rs4869313 		0.724 0.240 5 96888176 intron variant T/A;G snv
CUI: C0007570
Disease: Celiac Disease
Celiac Disease 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2015 2015
dbSNP: rs7711564
rs7711564 		1.000 0.040 5 96760515 intron variant C/G snv 0.29
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2015 2015