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: 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: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		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: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
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: 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: 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: 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: rs6257
rs6257 		0.827 0.200 17 7630399 3 prime UTR variant T/C snv 9.4E-02 8.1E-02
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 2009 2009
dbSNP: rs6259
rs6259 		0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02
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 2009 2009
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: 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: rs758188449
rs758188449 		0.925 0.080 17 7632936 missense variant G/A;T snv 6.8E-05; 4.0E-06
CUI: C0476089
Disease: Endometrial Carcinoma
Endometrial Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2008 2008
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: C1443016
Disease: Estradiol level result
Estradiol level result 		0.700 1.000 1 2012 2012
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: 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: rs6259
rs6259 		0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02
CUI: C0235782
Disease: Gallbladder Carcinoma
Gallbladder Carcinoma 		Digestive System Diseases; Neoplasms 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: C0085207
Disease: Gestational Diabetes
Gestational Diabetes 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2018 2018
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: rs1421320930
rs1421320930 		17 7633271 synonymous variant C/T snv 4.0E-06 7.0E-06
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease 		Cardiovascular Diseases 0.010 1.000 1 2010 2010
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
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: 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