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: rs1799941
rs1799941 		0.763 0.280 17 7630105 5 prime UTR variant G/A snv 0.18
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.030 0.667 3 2010 2014
dbSNP: rs1799941
rs1799941 		0.763 0.280 17 7630105 5 prime UTR variant G/A snv 0.18
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.020 1.000 2 2013 2015
dbSNP: rs1022228924
rs1022228924 		1.000 0.040 17 7630506 missense variant A/G snv
CUI: C0242666
Disease: Protein S Deficiency
Protein S Deficiency 		Hemic and Lymphatic Diseases 0.010 1.000 1 1998 1998
dbSNP: rs113214318
rs113214318 		17 7633255 missense variant A/G snv
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs12150660
rs12150660 		1.000 0.040 17 7618597 intron variant G/T snv 0.17
CUI: C0523912
Disease: Testosterone measurement
Testosterone measurement 		0.800 1.000 1 2011 2011
dbSNP: rs12150660
rs12150660 		1.000 0.040 17 7618597 intron variant G/T snv 0.17
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12150660
rs12150660 		1.000 0.040 17 7618597 intron variant G/T snv 0.17
CUI: C0202218
Disease: Sex hormone binding globulin measurement
Sex hormone binding globulin measurement 		0.700 1.000 1 2012 2012
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: rs12150660
rs12150660 		1.000 0.040 17 7618597 intron variant G/T snv 0.17
CUI: C1443016
Disease: Estradiol level result
Estradiol level result 		0.700 1.000 1 2012 2012
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: 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: rs762304200
rs762304200 		17 7630716 synonymous variant A/G snv 2.8E-05
CUI: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2020 2020
dbSNP: rs762304200
rs762304200 		17 7630716 synonymous variant A/G snv 2.8E-05
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2020 2020