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: rs13615
rs13615 		21 26837348 3 prime UTR variant A/G snv 9.4E-02
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
dbSNP: rs1056123575
rs1056123575 		0.925 0.080 21 26844557 missense variant G/A snv 4.2E-06 7.0E-06
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 1.000 1 2009 2009
dbSNP: rs1056123575
rs1056123575 		0.925 0.080 21 26844557 missense variant G/A snv 4.2E-06 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1056123575
rs1056123575 		0.925 0.080 21 26844557 missense variant G/A snv 4.2E-06 7.0E-06
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		Pathological Conditions, Signs and Symptoms; Neoplasms 0.010 1.000 1 2009 2009
dbSNP: rs1056123575
rs1056123575 		0.925 0.080 21 26844557 missense variant G/A snv 4.2E-06 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs12140
rs12140 		1.000 0.080 21 26837076 3 prime UTR variant T/C snv 7.7E-02
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs2738
rs2738 		1.000 0.040 21 26836585 3 prime UTR variant C/A snv 7.7E-02
CUI: C0399526
Disease: Class III malocclusion
Class III malocclusion 		Stomatognathic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs428785
rs428785 		0.882 0.040 21 26844276 missense variant C/A;G;T snv 1.3E-05; 0.70 0.78
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs428785
rs428785 		0.882 0.040 21 26844276 missense variant C/A;G;T snv 1.3E-05; 0.70 0.78
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2008 2008
dbSNP: rs428785
rs428785 		0.882 0.040 21 26844276 missense variant C/A;G;T snv 1.3E-05; 0.70 0.78
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2008 2008