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: 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: 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: 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
dbSNP: rs2132572
rs2132572 		1.000 7 45921946 upstream gene variant T/C snv 0.79
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2132572
rs2132572 		1.000 7 45921946 upstream gene variant T/C snv 0.79
CUI: C1337013
Disease: Differentiated Thyroid Gland Carcinoma
Differentiated Thyroid Gland Carcinoma 		0.010 1.000 1 2012 2012
dbSNP: rs2132572
rs2132572 		1.000 7 45921946 upstream gene variant T/C snv 0.79
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017
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: rs2854744
rs2854744 		0.695 0.520 7 45921476 intron variant G/T snv 0.48
CUI: C0041408
Disease: Turner Syndrome
Turner Syndrome 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2854744
rs2854744 		0.695 0.520 7 45921476 intron variant G/T snv 0.48
CUI: C0001206
Disease: Acromegaly
Acromegaly 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2854744
rs2854744 		0.695 0.520 7 45921476 intron variant G/T snv 0.48
CUI: C0242350
Disease: Erectile dysfunction
Erectile dysfunction 		Male Urogenital Diseases; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs2854744
rs2854744 		0.695 0.520 7 45921476 intron variant G/T snv 0.48
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2854744
rs2854744 		0.695 0.520 7 45921476 intron variant G/T snv 0.48
CUI: C0005695
Disease: Bladder Neoplasm
Bladder Neoplasm 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2854744
rs2854744 		0.695 0.520 7 45921476 intron variant G/T snv 0.48
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2011 2011
dbSNP: rs2854744
rs2854744 		0.695 0.520 7 45921476 intron variant G/T snv 0.48
CUI: C0279626
Disease: Squamous cell carcinoma of esophagus
Squamous cell carcinoma of esophagus 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs2854744
rs2854744 		0.695 0.520 7 45921476 intron variant G/T snv 0.48
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2010 2010
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: rs2854744
rs2854744 		0.695 0.520 7 45921476 intron variant G/T snv 0.48
CUI: C0020473
Disease: Hyperlipidemia
Hyperlipidemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2854744
rs2854744 		0.695 0.520 7 45921476 intron variant G/T snv 0.48
CUI: C0949059
Disease: Polyp of large intestine
Polyp of large intestine 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs2854744
rs2854744 		0.695 0.520 7 45921476 intron variant G/T snv 0.48
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs2854744
rs2854744 		0.695 0.520 7 45921476 intron variant G/T snv 0.48
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012