SHBG, sex hormone binding globulin, 6462

N. diseases: 368; N. variants: 20
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12150660
rs12150660
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0523912
Disease:
Testosterone measurement
T 0.800 GeneticVariation GWASCAT Two single-nucleotide polymorphisms at the sex hormone-binding globulin (SHBG) locus (17p13-p12) were identified as independently associated with serum testosterone concentration (rs12150660, p = 1.2×10(-41) and rs6258, p = 2.3×10(-22)). 21998597 2011
dbSNP: rs12150660
rs12150660
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0523912
Disease:
Testosterone measurement
T 0.800 GeneticVariation GWASDB Two single-nucleotide polymorphisms at the sex hormone-binding globulin (SHBG) locus (17p13-p12) were identified as independently associated with serum testosterone concentration (rs12150660, p = 1.2×10(-41) and rs6258, p = 2.3×10(-22)). 21998597 2011
dbSNP: rs6258
rs6258
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0523912
Disease:
Testosterone measurement
T 0.800 GeneticVariation GWASDB Genetic variants in the SHBG locus and on the X chromosome are associated with a substantial variation in testosterone concentrations and increased risk of low testosterone. rs6258 is the first reported SHBG polymorphism, which affects testosterone binding to SHBG and the free testosterone fraction and could therefore influence the calculation of free testosterone using law-of-mass-action equation. 21998597 2011
dbSNP: rs6258
rs6258
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0523912
Disease:
Testosterone measurement
T 0.800 GeneticVariation GWASCAT Genetic variants in the SHBG locus and on the X chromosome are associated with a substantial variation in testosterone concentrations and increased risk of low testosterone. rs6258 is the first reported SHBG polymorphism, which affects testosterone binding to SHBG and the free testosterone fraction and could therefore influence the calculation of free testosterone using law-of-mass-action equation. 21998597 2011
dbSNP: rs858516
rs858516
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0205682
Disease:
Waist-Hip Ratio
T 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs858516
rs858516
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0523912
Disease:
Testosterone measurement
T 0.700 GeneticVariation GWASCAT Genetic Association Study of Eight Steroid Hormones and Implications for Sexual Dimorphism of Coronary Artery Disease. 31169883 2019
dbSNP: rs858519
rs858519
Entrez Id: 6462;112483
Gene Symbol: SHBG;SAT2
SHBG;SAT2
CUI: C0205682
Disease:
Waist-Hip Ratio
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs858519
rs858519
Entrez Id: 6462;112483
Gene Symbol: SHBG;SAT2
SHBG;SAT2
CUI: C2985280
Disease:
Blood Protein Measurement
T 0.700 GeneticVariation GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
dbSNP: rs858518
rs858518
Entrez Id: 6462;112483
Gene Symbol: SHBG;SAT2
SHBG;SAT2
CUI: C0427460
Disease:
Red cell distribution width determination
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs858518
rs858518
Entrez Id: 6462;112483
Gene Symbol: SHBG;SAT2
SHBG;SAT2
CUI: C1304746
Disease:
RDW - Red blood cell distribution width result
A 0.700 GeneticVariation GWASCAT The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. 27863252 2016
dbSNP: rs12150660
rs12150660
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0202218
Disease:
Sex hormone binding globulin measurement
T 0.700 GeneticVariation GWASCAT Loci near the identified SNPs included SHBG (rs12150660, 17p13.1, p = 1.8 × 10(-106)), PRMT6 (rs17496332, 1p13.3, p = 1.4 × 10(-11)), GCKR (rs780093, 2p23.3, p = 2.2 × 10(-16)), ZBTB10 (rs440837, 8q21.13, p = 3.4 × 10(-09)), JMJD1C (rs7910927, 10q21.3, p = 6.1 × 10(-35)), SLCO1B1 (rs4149056, 12p12.1, p = 1.9 × 10(-08)), NR2F2 (rs8023580, 15q26.2, p = 8.3 × 10(-12)), ZNF652 (rs2411984, 17q21.32, p = 3.5 × 10(-14)), TDGF3 (rs1573036, Xq22.3, p = 4.1 × 10(-14)), LHCGR (rs10454142, 2p16.3, p = 1.3 × 10(-07)), BAIAP2L1 (rs3779195, 7q21.3, p = 2.7 × 10(-08)), and UGT2B15 (rs293428, 4q13.2, p = 5.5 × 10(-06)). 22829776 2012
dbSNP: rs12150660
rs12150660
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0337434
Disease:
Estradiol measurement
T 0.700 GeneticVariation GWASDB A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. 22829776 2012
dbSNP: rs12150660
rs12150660
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C1443016
Disease:
Estradiol level result
T 0.700 GeneticVariation GWASDB A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. 22829776 2012
dbSNP: rs6258
rs6258
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0202218
Disease:
Sex hormone binding globulin measurement
T 0.700 GeneticVariation GWASCAT A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. 22829776 2012
dbSNP: rs6258
rs6258
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C1443016
Disease:
Estradiol level result
T 0.700 GeneticVariation GWASDB A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. 22829776 2012
dbSNP: rs6258
rs6258
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0337434
Disease:
Estradiol measurement
T 0.700 GeneticVariation GWASDB A genome-wide association meta-analysis of circulating sex hormone-binding globulin reveals multiple Loci implicated in sex steroid hormone regulation. 22829776 2012
dbSNP: rs6259
rs6259
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.060 GeneticVariation BEFREE However, no significant difference in genotype distribution between PCOS and controls provided an insight that rs6259 polymorphism is not associated with the risk of PCOS and SHBG levels. 30719605 2019
dbSNP: rs6259
rs6259
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.060 GeneticVariation BEFREE Taken together, the study showed that SHBG rs6259 polymorphisms might be correlated with the risk of PCOS and the outcome of IVF-ET treatment. 30520140 2019
dbSNP: rs6259
rs6259
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0678222
Disease:
Breast Carcinoma
0.060 GeneticVariation BEFREE In summary, this meta-analysis suggests that SHBG Asp327Asn polymorphism is not associated with breast cancer risk overall, while it might be an important genetic susceptibility factor in postmenopausal Asian women for developing breast cancer. 22711300 2012
dbSNP: rs6259
rs6259
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.060 GeneticVariation BEFREE Carrying mutant alleles of rs727428 was found to be associated with a 1.29 odds ratio (OR) for PCOS, whereas carrying mutant alleles of rs6259 associated with a 0.68 OR for PCOS. 23001781 2012
dbSNP: rs6259
rs6259
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.060 GeneticVariation BEFREE In summary, this meta-analysis suggests that SHBG Asp327Asn polymorphism is not associated with breast cancer risk overall, while it might be an important genetic susceptibility factor in postmenopausal Asian women for developing breast cancer. 22711300 2012
dbSNP: rs6259
rs6259
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0678222
Disease:
Breast Carcinoma
0.060 GeneticVariation BEFREE Five SNPs (AHR rs2066853, ATM rs1003623, ESR1 rs2234693, GSTP1 rs1695, and SHBG rs6259) showed generally consistent results in SBCS I and SBCS II and statistically significant associations with breast cancer risk in combined analyses, mostly in subgroups defined by age or menopausal status. 21454829 2011
dbSNP: rs6259
rs6259
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.060 GeneticVariation BEFREE The study aims were 1) to determine whether any of four SHBG SNPs (rs1779941, rs6297, rs6259, and rs727428) are associated with PCOS and 2) to determine whether SNP genotype influences SHBG levels in PCOS women. 21252242 2011
dbSNP: rs6259
rs6259
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.060 GeneticVariation BEFREE Five SNPs (AHR rs2066853, ATM rs1003623, ESR1 rs2234693, GSTP1 rs1695, and SHBG rs6259) showed generally consistent results in SBCS I and SBCS II and statistically significant associations with breast cancer risk in combined analyses, mostly in subgroups defined by age or menopausal status. 21454829 2011
dbSNP: rs6259
rs6259
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.060 GeneticVariation BEFREE Our observations, demonstrating the increased efficiency of D327N SHBG in counteracting estradiol action and a significantly higher frequency of Asp327Asn polymorphism in women not developing breast cancer after estrogen exposure, first provide evidence for the mechanism of D327N SHBG protective action. 18437557 2009