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: 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: 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: 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
dbSNP: rs2854746
rs2854746 		0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 1998 1998
dbSNP: rs2854746
rs2854746 		0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38
CUI: C0546837
Disease: Malignant neoplasm of esophagus
Malignant neoplasm of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 1998 1998
dbSNP: rs2854746
rs2854746 		0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs2854746
rs2854746 		0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2005 2005
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: rs2854744
rs2854744 		0.695 0.520 7 45921476 intron variant G/T snv 0.48
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.040 0.500 4 2007 2018
dbSNP: rs2854744
rs2854744 		0.695 0.520 7 45921476 intron variant G/T snv 0.48
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2007 2016
dbSNP: rs2854744
rs2854744 		0.695 0.520 7 45921476 intron variant G/T snv 0.48
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.030 1.000 3 2007 2016
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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: 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: rs1450640054
rs1450640054 		0.925 0.080 7 45921122 missense variant T/C snv 1.0E-05
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs1450640054
rs1450640054 		0.925 0.080 7 45921122 missense variant T/C snv 1.0E-05
CUI: C0699790
Disease: Colon Carcinoma
Colon 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: 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: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008
dbSNP: rs2854744
rs2854744 		0.695 0.520 7 45921476 intron variant G/T snv 0.48
CUI: C0271561
Disease: Somatotropin deficiency
Somatotropin deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009
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: rs2132570
rs2132570 		1.000 0.040 7 45922864 upstream gene variant T/A;G snv
CUI: C0016034
Disease: Breast Fibrocystic Disease
Breast Fibrocystic Disease 		Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010