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: 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: 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: 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: 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: 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: 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: 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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2007 2007
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: 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: 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: 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: 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: 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: 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: 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: 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: 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: rs2854746
rs2854746 		0.752 0.200 7 45921046 missense variant G/A;C;T snv 0.38
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2019 2019
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: 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: 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: 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: 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