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: 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: C0242339
Disease: Dyslipidemias
Dyslipidemias 		Nutritional and Metabolic Diseases 0.010 1.000 1 2020 2020
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: 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
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: 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: 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: 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: 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: 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: 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
CUI: C0202218
Disease: Sex hormone binding globulin measurement
Sex hormone binding globulin 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: C0523912
Disease: Testosterone measurement
Testosterone measurement 		0.800 1.000 1 2011 2011