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: rs2453839
rs2453839 		0.925 0.080 7 45913974 intron variant T/C snv 0.26
CUI: C0410480
Disease: Avascular Necrosis of Femur Head
Avascular Necrosis of Femur Head 		Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2453839
rs2453839 		0.925 0.080 7 45913974 intron variant T/C snv 0.26
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs2453839
rs2453839 		0.925 0.080 7 45913974 intron variant T/C snv 0.26
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs145188037
rs145188037 		0.925 0.080 7 45914866 missense variant G/A snv 1.1E-02 9.9E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs145188037
rs145188037 		0.925 0.080 7 45914866 missense variant G/A snv 1.1E-02 9.9E-03
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 1998 1998
dbSNP: rs145188037
rs145188037 		0.925 0.080 7 45914866 missense variant G/A snv 1.1E-02 9.9E-03
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 1998 1998
dbSNP: rs145188037
rs145188037 		0.925 0.080 7 45914866 missense variant G/A snv 1.1E-02 9.9E-03
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 1998 1998
dbSNP: rs17847676
rs17847676 		7 45914941 missense variant C/T snv 8.4E-05 2.8E-05
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs538312081
rs538312081 		1.000 0.080 7 45914942 missense variant G/A;C snv 1.6E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs3110697
rs3110697 		0.827 0.160 7 45915430 intron variant A/G snv 0.58
CUI: C0016034
Disease: Breast Fibrocystic Disease
Breast Fibrocystic Disease 		Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3110697
rs3110697 		0.827 0.160 7 45915430 intron variant A/G snv 0.58
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3110697
rs3110697 		0.827 0.160 7 45915430 intron variant A/G snv 0.58
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3110697
rs3110697 		0.827 0.160 7 45915430 intron variant A/G snv 0.58
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs3110697
rs3110697 		0.827 0.160 7 45915430 intron variant A/G snv 0.58
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2013 2013
dbSNP: rs3110697
rs3110697 		0.827 0.160 7 45915430 intron variant A/G snv 0.58
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs3110697
rs3110697 		0.827 0.160 7 45915430 intron variant A/G snv 0.58
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs6413441
rs6413441 		0.925 0.080 7 45915652 intron variant T/- del 0.57
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs6413441
rs6413441 		0.925 0.080 7 45915652 intron variant T/- del 0.57
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
dbSNP: rs6953668
rs6953668 		1.000 0.080 7 45916276 intron variant G/A snv 2.5E-02
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2854746
rs2854746 		0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.050 0.400 5 2007 2018
dbSNP: rs2854746
rs2854746 		0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.020 1.000 2 2010 2010
dbSNP: rs2854746
rs2854746 		0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 0.500 2 2010 2013
dbSNP: rs2854746
rs2854746 		0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs2854746
rs2854746 		0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs2854746
rs2854746 		0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.010 1.000 1 1998 1998