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
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: 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: rs858518
rs858518
17 7629707 intron variant G/A snv 0.53
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
Red cell distribution width determination
0.700 1.000 1 2016 2016
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: rs1799941
rs1799941
0.763 0.280 17 7630105 5 prime UTR variant G/A snv 0.18
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: 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: 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
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2009 2009