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: rs6258
rs6258
1.000 0.040 17 7631360 missense variant C/A;T snv 5.6E-05; 4.5E-03
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: C1443016
Disease: Estradiol level result
Estradiol level result
0.700 1.000 1 2012 2012
dbSNP: rs6258
rs6258
1.000 0.040 17 7631360 missense variant C/A;T snv 5.6E-05; 4.5E-03
CUI: C0337434
Disease: Estradiol measurement
Estradiol measurement
0.700 1.000 1 2012 2012
dbSNP: rs6258
rs6258
1.000 0.040 17 7631360 missense variant C/A;T snv 5.6E-05; 4.5E-03
CUI: C1443016
Disease: Estradiol level result
Estradiol level result
0.700 1.000 1 2012 2012
dbSNP: rs6258
rs6258
1.000 0.040 17 7631360 missense variant C/A;T snv 5.6E-05; 4.5E-03
Sex hormone binding globulin measurement
0.700 1.000 1 2012 2012
dbSNP: rs858516
rs858516
17 7633780 downstream gene variant C/G;T snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio
0.700 1.000 1 2019 2019
dbSNP: rs858516
rs858516
17 7633780 downstream gene variant C/G;T snv
CUI: C0523912
Disease: Testosterone measurement
Testosterone measurement
0.700 1.000 1 2019 2019
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: 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: 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: 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