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: rs676387
rs676387 		0.882 0.120 17 42554255 non coding transcript exon variant C/A snv 0.25
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs605059
rs605059 		0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.050 0.800 5 2005 2017
dbSNP: rs605059
rs605059 		0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2004 2013
dbSNP: rs605059
rs605059 		0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.040 1.000 4 2004 2013
dbSNP: rs605059
rs605059 		0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.030 1.000 3 2004 2015
dbSNP: rs605059
rs605059 		0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.030 1.000 3 2004 2015
dbSNP: rs605059
rs605059 		0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05
CUI: C0042133
Disease: Uterine Fibroids
Uterine Fibroids 		Neoplasms 0.020 1.000 2 2012 2015
dbSNP: rs605059
rs605059 		0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 < 0.001 2 2005 2008
dbSNP: rs201739205
rs201739205 		0.851 0.200 17 42552898 5 prime UTR variant A/C snv 7.8E-03 8.2E-03
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs201739205
rs201739205 		0.851 0.200 17 42552898 5 prime UTR variant A/C snv 7.8E-03 8.2E-03
CUI: C0238033
Disease: Carcinoma of Male Breast
Carcinoma of Male Breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015
dbSNP: rs201739205
rs201739205 		0.851 0.200 17 42552898 5 prime UTR variant A/C snv 7.8E-03 8.2E-03
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs201739205
rs201739205 		0.851 0.200 17 42552898 5 prime UTR variant A/C snv 7.8E-03 8.2E-03
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs201739205
rs201739205 		0.851 0.200 17 42552898 5 prime UTR variant A/C snv 7.8E-03 8.2E-03
CUI: C0242787
Disease: Malignant neoplasm of male breast
Malignant neoplasm of male breast 		Neoplasms; Skin and Connective Tissue Diseases; Endocrine System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs2676530
rs2676530 		0.925 0.080 17 42553937 non coding transcript exon variant C/A;G;T snv 0.25
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2007 2007
dbSNP: rs2676530
rs2676530 		0.925 0.080 17 42553937 non coding transcript exon variant C/A;G;T snv 0.25
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2007 2007
dbSNP: rs605059
rs605059 		0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs605059
rs605059 		0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05
CUI: C0042131
Disease: Uterine Diseases
Uterine Diseases 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2015 2015
dbSNP: rs605059
rs605059 		0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05
CUI: C0006145
Disease: Breast Diseases
Breast Diseases 		Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs605059
rs605059 		0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs605059
rs605059 		0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 < 0.001 1 2005 2005
dbSNP: rs605059
rs605059 		0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05
CUI: C3203672
Disease: CYP2C19 polymorphism
CYP2C19 polymorphism 		0.010 1.000 1 2015 2015
dbSNP: rs605059
rs605059 		0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs605059
rs605059 		0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05
CUI: C0016034
Disease: Breast Fibrocystic Disease
Breast Fibrocystic Disease 		Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs676387
rs676387 		0.882 0.120 17 42554255 non coding transcript exon variant C/A snv 0.25
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011
dbSNP: rs676387
rs676387 		0.882 0.120 17 42554255 non coding transcript exon variant C/A snv 0.25
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014