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: 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
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: 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
dbSNP: rs2854746
rs2854746 		0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 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: 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: 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: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		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: 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: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2008 2008