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: C0020619
Disease: Hypogonadism
Hypogonadism 		Endocrine System Diseases 0.010 1.000 1 2019 2019
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
dbSNP: rs6259
rs6259 		0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02
CUI: C0023015
Disease: Language Disorders
Language Disorders 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs6259
rs6259 		0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
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: rs6259
rs6259 		0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2010 2010
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: 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: 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: 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: rs758188449
rs758188449 		0.925 0.080 17 7632936 missense variant G/A;T snv 6.8E-05; 4.0E-06
CUI: C0007103
Disease: Malignant neoplasm of endometrium
Malignant neoplasm of endometrium 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2008 2008
dbSNP: rs6259
rs6259 		0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		Digestive System Diseases; Neoplasms 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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs6259
rs6259 		0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2007 2007
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: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.020 1.000 2 2013 2015
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: 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: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs6259
rs6259 		0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2014 2014
dbSNP: rs6259
rs6259 		0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02
CUI: C1282496
Disease: Metastasis from malignant tumor of prostate
Metastasis from malignant tumor of prostate 		0.010 1.000 1 2019 2019
dbSNP: rs6259
rs6259 		0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02
CUI: C0936223
Disease: Metastatic Prostate Carcinoma
Metastatic Prostate Carcinoma 		Neoplasms; Male Urogenital 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: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 < 0.001 1 2014 2014
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: rs6259
rs6259 		0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2016 2016