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: 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: 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: 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: 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: rs6259
rs6259 		0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02
CUI: C0085083
Disease: Ovarian Hyperstimulation Syndrome
Ovarian Hyperstimulation Syndrome 		Female Urogenital Diseases and Pregnancy Complications; 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: 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: rs6259
rs6259 		0.658 0.400 17 7633209 missense variant G/A snv 8.9E-02 8.1E-02
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		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: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal 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: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		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: 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: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2010 2010