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: 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: 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: rs858518
rs858518 		17 7629707 intron variant G/A snv 0.53
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2016 2016
dbSNP: rs858518
rs858518 		17 7629707 intron variant G/A snv 0.53
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2016 2016
dbSNP: rs858519
rs858519 		17 7628647 intron variant T/C snv 0.46
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs858519
rs858519 		17 7628647 intron variant T/C snv 0.46
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs6259
rs6259 		0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.060 0.833 6 2004 2019
dbSNP: rs6259
rs6259 		0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.060 0.833 6 2003 2012
dbSNP: rs6259
rs6259 		0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.060 0.833 6 2003 2012
dbSNP: rs6259
rs6259 		0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2007 2008
dbSNP: rs6259
rs6259 		0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.020 1.000 2 2007 2008
dbSNP: rs6259
rs6259 		0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02
CUI: C0021364
Disease: Male infertility
Male infertility 		Male Urogenital Diseases 0.020 1.000 2 2011 2017
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: rs115336700
rs115336700 		1.000 0.040 17 7631341 missense variant G/A;C snv 2.8E-05; 1.7E-03
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
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