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: 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: 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: rs2854744
rs2854744 		0.695 0.520 7 45921476 intron variant G/T snv 0.48
CUI: C0005684
Disease: Malignant neoplasm of urinary bladder
Malignant neoplasm of urinary bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2011 2012
dbSNP: rs2854744
rs2854744 		0.695 0.520 7 45921476 intron variant G/T snv 0.48
CUI: C0699885
Disease: Carcinoma of bladder
Carcinoma of bladder 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 1.000 2 2011 2012
dbSNP: rs2854744
rs2854744 		0.695 0.520 7 45921476 intron variant G/T snv 0.48
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2012 2018
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
dbSNP: rs2854744
rs2854744 		0.695 0.520 7 45921476 intron variant G/T snv 0.48
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
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