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: rs6259
rs6259
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0476089
Disease:
Endometrial Carcinoma
0.020 GeneticVariation BEFREE Association of endometrial cancer risk with a functional polymorphism (Asp(327)Asn) in the sex hormone-binding globulin gene. 17315164 2007
dbSNP: rs6259
rs6259
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0007103
Disease:
Malignant neoplasm of endometrium
0.020 GeneticVariation BEFREE We found that the Asp(327)Asn (rs6259) polymorphism was associated with decreased risk of endometrial cancer, particularly among postmenopausal women (OR = 0.79, 95% CI = 0.62-1.00). 19005973 2008
dbSNP: rs6259
rs6259
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0021364
Disease:
Male infertility
0.020 GeneticVariation BEFREE Also, genotype frequencies, allele frequency, and haplotype were all analyzed in both groups.There were statistical differences in A allele frequency (P = .017) and GA genotype frequency (P = .016) of SHBG gene rs6259 locus and in CC genotype frequency of SHBG gene rs727428 locus (P = .034) between the 2 groups.Male infertility is associated with GA genotype and A allele of rs6259 locus, as well as CC genotype of rs727428 locus in SHBG gene. 28796064 2017
dbSNP: rs6259
rs6259
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0007103
Disease:
Malignant neoplasm of endometrium
0.020 GeneticVariation BEFREE Association of endometrial cancer risk with a functional polymorphism (Asp(327)Asn) in the sex hormone-binding globulin gene. 17315164 2007
dbSNP: rs1022228924
rs1022228924
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0242666
Disease:
Protein S Deficiency
0.010 GeneticVariation BEFREE It was concluded that the Gly295-to-Ser mutation and Val46-to-Leu mutation cause type I protein S deficiency and that the Lys9-to-Glu mutation causes type II deficiency. 9651142 1998
dbSNP: rs113214318
rs113214318
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE The purpose this study was to determine whether Arg353Gln and -323Del/Ins polymorphisms of factor VII (FVII) are related to blood pressure levels and hypertension. 15452029 2004
dbSNP: rs115336700
rs115336700
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0524620
Disease:
Metabolic Syndrome X
0.010 GeneticVariation BEFREE The Pro12Ala polymorphism of the PPAR gamma 2 gene influences sex hormone-binding globulin level and its relationship to the development of the metabolic syndrome in young Finnish men. 17322577 2006
dbSNP: rs12150660
rs12150660
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0020619
Disease:
Hypogonadism
0.010 GeneticVariation BEFREE We investigated the role of 2 single nucleotide polymorphisms (rs6258 and rs12150660) in the sex hormone-binding globulin (SHBG) locus implicated in increased hypogonadism risk in the general population. 31085753 2019
dbSNP: rs1266235110
rs1266235110
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0010068
Disease:
Coronary heart disease
0.010 GeneticVariation BEFREE It was observed that Haplotype-1(rs1799941 G allele-P156L P allele-D356 N D allele) was associated with increased CHD risk, while Haplotype-2 (rs1799941 rare A allele-P156L C allele- D356 N G allele) was correlated with the decreased CHD risk (p = 0.0167). 31111369 2019
dbSNP: rs1371149614
rs1371149614
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0023895
Disease:
Liver diseases
0.010 GeneticVariation BEFREE Hereditary hemochromatosis resulting either from homozygosity for the C282Y polymorphism of the HFE gene, or compound heterozygosity for C282Y and H63D, manifests with liver disease and hypogonadism. 20160468 2010
dbSNP: rs1371149614
rs1371149614
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0020619
Disease:
Hypogonadism
0.010 GeneticVariation BEFREE Hereditary hemochromatosis resulting either from homozygosity for the C282Y polymorphism of the HFE gene, or compound heterozygosity for C282Y and H63D, manifests with liver disease and hypogonadism. 20160468 2010
dbSNP: rs1403934301
rs1403934301
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.010 GeneticVariation BEFREE The Thr54 allele of the FABP2 Ala54Thr polymorphism was associated with an increased incidence of peripheral atherosclerosis combined with T2DM in the population studied. 27778448 2017
dbSNP: rs1403934301
rs1403934301
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0003850
Disease:
Arteriosclerosis
0.010 GeneticVariation BEFREE The Thr54 allele of the FABP2 Ala54Thr polymorphism was associated with an increased incidence of peripheral atherosclerosis combined with T2DM in the population studied. 27778448 2017
dbSNP: rs1403934301
rs1403934301
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0004153
Disease:
Atherosclerosis
0.010 GeneticVariation BEFREE The Thr54 allele of the FABP2 Ala54Thr polymorphism was associated with an increased incidence of peripheral atherosclerosis combined with T2DM in the population studied. 27778448 2017
dbSNP: rs1421320930
rs1421320930
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE The results of our study reveal a significant association between T1128C and hypertension even after adjusting for age, sex and BMI. 20033074 2010
dbSNP: rs1799941
rs1799941
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE Single-nucleotide polymorphism, rs1799941 in the Sex Hormone-Binding Globulin (SHBG) gene, related to both serum testosterone and SHBG levels and the risk of myocardial infarction, type 2 diabetes, cancer and mortality in men: the Tromsø Study. 24327369 2014
dbSNP: rs1799941
rs1799941
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0376358
Disease:
Malignant neoplasm of prostate
0.010 GeneticVariation BEFREE In the NCI-Breast and Prostate Cancer Cohort Consortium, 874 SNPs in 37 candidate genes in the sex steroid hormone pathway were examined in relation to circulating levels of SHBG (N = 4720), testosterone (N = 4678), 3 alpha-androstanediol-glucuronide (N = 4767) and 17beta-estradiol (N = 2014) in Caucasian men. rs1799941 in SHBG is highly significantly associated with circulating levels of SHBG (P = 4.52 x 10(-21)), consistent with previous studies, and testosterone (P = 7.54 x 10(-15)), with mean difference of 26.9 and 14.3%, respectively, comparing wild-type to homozygous variant carriers. 19574343 2009
dbSNP: rs1799941
rs1799941
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0600139
Disease:
Prostate carcinoma
0.010 GeneticVariation BEFREE In the NCI-Breast and Prostate Cancer Cohort Consortium, 874 SNPs in 37 candidate genes in the sex steroid hormone pathway were examined in relation to circulating levels of SHBG (N = 4720), testosterone (N = 4678), 3 alpha-androstanediol-glucuronide (N = 4767) and 17beta-estradiol (N = 2014) in Caucasian men. rs1799941 in SHBG is highly significantly associated with circulating levels of SHBG (P = 4.52 x 10(-21)), consistent with previous studies, and testosterone (P = 7.54 x 10(-15)), with mean difference of 26.9 and 14.3%, respectively, comparing wild-type to homozygous variant carriers. 19574343 2009
dbSNP: rs1799941
rs1799941
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0027051
Disease:
Myocardial Infarction
0.010 GeneticVariation BEFREE The SNP rs1799941 was not significantly associated with MI, T2DM, cancer or mortality. 24327369 2014
dbSNP: rs1799941
rs1799941
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.010 GeneticVariation BEFREE Finally, the rs1799941 variant was not in Hardy-Weinberg equilibrium in the small group of patients with PCOS recruited from the general population, yet this variant was not associated with PCOS. 23001781 2012
dbSNP: rs1799941
rs1799941
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0028754
Disease:
Obesity
0.010 GeneticVariation BEFREE Although SHBG SNPs associated with type 2 diabetes mellitus do not appear to be associated with PCOS status, rs1799941 and rs727428 genotypes are associated with SHBG levels independent of the effects of insulin resistance and obesity. 21252242 2011
dbSNP: rs1799941
rs1799941
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0010068
Disease:
Coronary heart disease
0.010 GeneticVariation BEFREE It was observed that Haplotype-1(rs1799941 G allele-P156L P allele-D356 N D allele) was associated with increased CHD risk, while Haplotype-2 (rs1799941 rare A allele-P156L C allele- D356 N G allele) was correlated with the decreased CHD risk (p = 0.0167). 31111369 2019
dbSNP: rs1799941
rs1799941
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0020619
Disease:
Hypogonadism
0.010 GeneticVariation BEFREE The rs1799941 of the SHBG gene can partially determine the presence of obesity-related hypogonadism in young non-diabetic males and whether these subjects have normal FT HG. 31370189 2019
dbSNP: rs1799941
rs1799941
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Single-nucleotide polymorphism, rs1799941 in the Sex Hormone-Binding Globulin (SHBG) gene, related to both serum testosterone and SHBG levels and the risk of myocardial infarction, type 2 diabetes, cancer and mortality in men: the Tromsø Study. 24327369 2014
dbSNP: rs201496274
rs201496274
Entrez Id: 6462
Gene Symbol: SHBG
SHBG
CUI: C0032131
Disease:
Plasmacytoma
0.010 GeneticVariation BEFREE When tested with wild-type (DBA/2) p16, both A134C and G232A BALB/c-specific variants of p16 were inefficient in their ability to inhibit the activity of cyclin D2/CDK4 in kinase assays with retinoblastoma protein, suggesting this defective, inherited allele plays an important role in the genetic susceptibility of BALB/c mice for plasmacytoma induction and that p16(INK4a) is a strong candidate for the Pctr1 locus. 9482902 1998