SHBG, sex hormone binding globulin, 6462

N. diseases: 368; N. variants: 20
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: rs12150660
rs12150660 		1.000 0.040 17 7618597 intron variant G/T snv 0.17
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1266235110
rs1266235110 		1.000 0.040 17 7631674 missense variant T/C snv 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1371149614
rs1371149614 		1.000 0.040 17 7630488 missense variant G/C snv 4.0E-06
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		Endocrine System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1371149614
rs1371149614 		1.000 0.040 17 7630488 missense variant G/C snv 4.0E-06
CUI: C0023895
Disease: Liver diseases
Liver diseases 		Digestive System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1403934301
rs1403934301 		0.882 0.120 17 7631317 missense variant G/A snv
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1403934301
rs1403934301 		0.882 0.120 17 7631317 missense variant G/A snv
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 2017 2017
dbSNP: rs1403934301
rs1403934301 		0.882 0.120 17 7631317 missense variant G/A snv
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1421320930
rs1421320930 		17 7633271 synonymous variant C/T snv 4.0E-06 7.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1799941
rs1799941 		0.763 0.280 17 7630105 5 prime UTR variant G/A snv 0.18
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1799941
rs1799941 		0.763 0.280 17 7630105 5 prime UTR variant G/A snv 0.18
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2011 2011
dbSNP: rs1799941
rs1799941 		0.763 0.280 17 7630105 5 prime UTR variant G/A snv 0.18
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs1799941
rs1799941 		0.763 0.280 17 7630105 5 prime UTR variant G/A snv 0.18
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1799941
rs1799941 		0.763 0.280 17 7630105 5 prime UTR variant G/A snv 0.18
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1799941
rs1799941 		0.763 0.280 17 7630105 5 prime UTR variant G/A snv 0.18
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1799941
rs1799941 		0.763 0.280 17 7630105 5 prime UTR variant G/A snv 0.18
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1799941
rs1799941 		0.763 0.280 17 7630105 5 prime UTR variant G/A snv 0.18
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1799941
rs1799941 		0.763 0.280 17 7630105 5 prime UTR variant G/A snv 0.18
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs201496274
rs201496274 		1.000 0.080 17 7631212 missense variant A/G snv
CUI: C0032131
Disease: Plasmacytoma
Plasmacytoma 		Neoplasms; Immune System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs3760213
rs3760213 		1.000 0.040 17 7629896 intron variant G/A snv 7.8E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs6257
rs6257 		0.827 0.200 17 7630399 3 prime UTR variant T/C snv 9.4E-02 8.1E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2012 2012
dbSNP: rs6257
rs6257 		0.827 0.200 17 7630399 3 prime UTR variant T/C snv 9.4E-02 8.1E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs6257
rs6257 		0.827 0.200 17 7630399 3 prime UTR variant T/C snv 9.4E-02 8.1E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs6257
rs6257 		0.827 0.200 17 7630399 3 prime UTR variant T/C snv 9.4E-02 8.1E-02
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 2009 2009
dbSNP: rs6257
rs6257 		0.827 0.200 17 7630399 3 prime UTR variant T/C snv 9.4E-02 8.1E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs6258
rs6258 		1.000 0.040 17 7631360 missense variant C/A;T snv 5.6E-05; 4.5E-03
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		Endocrine System Diseases 0.010 1.000 1 2019 2019