chr3:186570892:T>G Detail (hg19) (ADIPOQ, ADIPOQ-AS1)

Information

Genome

Assembly Position
hg19 chr3:186,570,892-186,570,892
hg38 chr3:186,853,103-186,853,103 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_004797.3:c.45T>G NP_004788.1:p.Gly15=
NM_001177800.1:c.45T>G NP_001171271.1:p.Gly15=
Ensemble ENST00000320741.7:c.45T>G ENST00000320741.7:p.Gly15=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.305
ToMMo:0.298
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.307

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 605441 OMIM
HGNC 13633 HGNC
Ensembl ENSG00000181092 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv15449582 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-10-30 criteria provided, single submitter ADIPOQ-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.011 Vascular Diseases From a group of DNA samples collected at baseline in a prospective cohort of 14 ... BeFree 16990411 Detail
0.004 colorectal carcinoma To discuss the association between adiponectin (ADIPOQ) gene rs2241766 and rs150... BeFree 25489716 Detail
0.013 colorectal cancer To discuss the association between adiponectin (ADIPOQ) gene rs2241766 and rs150... BeFree 25489716 Detail
0.322 Diabetes Mellitus, Non-Insulin-Dependent Assessment of type 2 diabetes risk conferred by SNPs rs2241766 and rs1501299 in ... BeFree 25135112 Detail
0.305 obesity We explored potential associations of two single nucleotide polymorphisms (SNPs)... BeFree 19755407 Detail
0.003 gestational diabetes Our study aimed to assess in vitro production of IL-10, IL-6, TNF-A, and adipone... BeFree 22070425 Detail
0.026 gestational diabetes Our study aimed to assess in vitro production of IL-10, IL-6, TNF-A, and adipone... BeFree 22070425 Detail
<0.001 gestational diabetes Our study aimed to assess in vitro production of IL-10, IL-6, TNF-A, and adipone... BeFree 22070425 Detail
0.008 Metabolic Diseases A single nucleotide polymorphism (SNP) in the adiponectin gene, 45T/G, has been ... BeFree 21218266 Detail
0.003 Hypoadiponectinemia The T45G polymorphism in the ADIPOQ gene and hypoadiponectinemia were associated... BeFree 19960000 Detail
0.305 obesity A single nucleotide polymorphism (SNP) in the adiponectin gene, 45T/G, has been ... BeFree 21218266 Detail
0.022 Coronary Arteriosclerosis Association between 45T/G polymorphism of adiponectin gene and coronary artery d... BeFree 21218266 Detail
<0.001 Conn Syndrome Genetic analysis of T45G and G276T adiponectin gene polymorphisms showed that, w... BeFree 19481913 Detail
<0.001 polycystic ovary syndrome Association of the T45G polymorphism in exon 2 of the adiponectin gene with poly... BeFree 15178661 Detail
0.185 Metabolic syndrome X Aim of the study was to evaluate the prevalence of metabolic symptoms in patient... BeFree 23590605 Detail
0.003 Ovarian Diseases Haplotype TGTG from adiponectin gene variants 45T/G and 276G/T is related to sus... BeFree 23685884 Detail
0.322 Diabetes Mellitus, Non-Insulin-Dependent Associations between 45T/G polymorphism of the adiponectin gene and plasma adipo... BeFree 17973869 Detail
0.143 diabetes mellitus A single nucleotide polymorphism (SNP) in the adiponectin gene, 45T/G, has been ... BeFree 21218266 Detail
0.083 hyperinsulinism The risk of PCOS, hyperandrogenism in patients with PCOS and low serum adiponect... BeFree 20388053 Detail
0.305 obesity Association of adiponectin gene (ADIPOQ) rs2241766 polymorphism with obesity in ... BeFree 24740426 Detail
0.003 Ovarian Diseases The risk of PCOS, hyperandrogenism in patients with PCOS and low serum adiponect... BeFree 20388053 Detail
0.020 Cardiovascular Diseases To assess whether the prevalence of SNP 45T/G and 276G/T of the adiponectin gene... BeFree 23685884 Detail
0.022 Coronary Arteriosclerosis Adiponectin multimers and ADIPOQ T45G in coronary artery disease in Caribbean ty... BeFree 19960000 Detail
0.020 Cardiovascular Diseases A significant association between rs2241766 in the adiponectin gene and CVD was ... BeFree 23972466 Detail
<0.001 Conn Syndrome T45G and G276T adiponectin gene polymorphisms in primary aldosteronism and healt... BeFree 23590605 Detail
0.322 Diabetes Mellitus, Non-Insulin-Dependent The adiponectin gene 45T/G mutation may be an important determinant of type 2 di... BeFree 22187345 Detail
0.049 coronary artery disease Association between 45T/G polymorphism of adiponectin gene and coronary artery d... BeFree 21218266 Detail
0.143 Hypertensive disease Haplotype TGTG from adiponectin gene variants 45T/G and 276G/T is related to sus... BeFree 23685884 Detail
0.008 Metabolic Diseases Adiponectin gene polymorphisms (T45G and G276T), adiponectin levels and risk for... BeFree 22155316 Detail
0.043 polycystic ovary syndrome Association of the T45G polymorphism in exon 2 of the adiponectin gene with poly... BeFree 15178661 Detail
0.322 Diabetes Mellitus, Non-Insulin-Dependent To investigate any association between Type 2 diabetes mellitus and two single n... BeFree 15842511 Detail
0.008 Diabetes A single nucleotide polymorphism (SNP) in the adiponectin gene, 45T/G, has been ... BeFree 21218266 Detail
0.018 Coronary heart disease Adiponectin multimers and ADIPOQ T45G in coronary artery disease in Caribbean ty... BeFree 19960000 Detail
0.003 Ovarian Diseases Our results suggested that the T45G polymorphism of adiponectin gene was not sig... BeFree 22270872 Detail
0.201 Non-alcoholic Fatty Liver Disease The T45G and G276T of the adiponectin gene may not be the important determinants... BeFree 19246975 Detail
0.043 polycystic ovary syndrome Haplotype TGTG from SNP 45T/G and 276G/T of the adiponectin gene contributes to ... BeFree 23685884 Detail
0.049 coronary artery disease Adiponectin multimers and ADIPOQ T45G in coronary artery disease in Caribbean ty... BeFree 19960000 Detail
0.018 Coronary heart disease Association between 45T/G polymorphism of adiponectin gene and coronary artery d... BeFree 21218266 Detail
0.133 Diabetic Nephropathy ADIPOQ genetic polymorphisms rs2241766 (+45T&gt;G), rs1063537, rs2241767 and rs2... BeFree 24894086 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_004797.4(ADIPOQ):c.45T>G (p.Gly15=) AND ADIPOQ-related disorder ClinVar Detail
From a group of DNA samples collected at baseline in a prospective cohort of 14 916 initially health... DisGeNET Detail
To discuss the association between adiponectin (ADIPOQ) gene rs2241766 and rs1501299 polymorphisms a... DisGeNET Detail
To discuss the association between adiponectin (ADIPOQ) gene rs2241766 and rs1501299 polymorphisms a... DisGeNET Detail
Assessment of type 2 diabetes risk conferred by SNPs rs2241766 and rs1501299 in the ADIPOQ gene, a c... DisGeNET Detail
We explored potential associations of two single nucleotide polymorphisms (SNPs) in the adiponectin ... DisGeNET Detail
Our study aimed to assess in vitro production of IL-10, IL-6, TNF-A, and adiponectin serum levels in... DisGeNET Detail
Our study aimed to assess in vitro production of IL-10, IL-6, TNF-A, and adiponectin serum levels in... DisGeNET Detail
Our study aimed to assess in vitro production of IL-10, IL-6, TNF-A, and adiponectin serum levels in... DisGeNET Detail
A single nucleotide polymorphism (SNP) in the adiponectin gene, 45T/G, has been reported in relation... DisGeNET Detail
The T45G polymorphism in the ADIPOQ gene and hypoadiponectinemia were associated with CAD in our T2D... DisGeNET Detail
A single nucleotide polymorphism (SNP) in the adiponectin gene, 45T/G, has been reported in relation... DisGeNET Detail
Association between 45T/G polymorphism of adiponectin gene and coronary artery disease in an Iranian... DisGeNET Detail
Genetic analysis of T45G and G276T adiponectin gene polymorphisms showed that, while the genotypes 4... DisGeNET Detail
Association of the T45G polymorphism in exon 2 of the adiponectin gene with polycystic ovary syndrom... DisGeNET Detail
Aim of the study was to evaluate the prevalence of metabolic symptoms in patients with PA compared t... DisGeNET Detail
Haplotype TGTG from adiponectin gene variants 45T/G and 276G/T is related to susceptibility to PCOS,... DisGeNET Detail
Associations between 45T/G polymorphism of the adiponectin gene and plasma adiponectin levels with t... DisGeNET Detail
A single nucleotide polymorphism (SNP) in the adiponectin gene, 45T/G, has been reported in relation... DisGeNET Detail
The risk of PCOS, hyperandrogenism in patients with PCOS and low serum adiponectin levels cannot be ... DisGeNET Detail
Association of adiponectin gene (ADIPOQ) rs2241766 polymorphism with obesity in adults: a meta-analy... DisGeNET Detail
The risk of PCOS, hyperandrogenism in patients with PCOS and low serum adiponectin levels cannot be ... DisGeNET Detail
To assess whether the prevalence of SNP 45T/G and 276G/T of the adiponectin gene and their haplotype... DisGeNET Detail
Adiponectin multimers and ADIPOQ T45G in coronary artery disease in Caribbean type 2 diabetic subjec... DisGeNET Detail
A significant association between rs2241766 in the adiponectin gene and CVD was established by the m... DisGeNET Detail
T45G and G276T adiponectin gene polymorphisms in primary aldosteronism and healthy controls in an Ea... DisGeNET Detail
The adiponectin gene 45T/G mutation may be an important determinant of type 2 diabetes in the Irania... DisGeNET Detail
Association between 45T/G polymorphism of adiponectin gene and coronary artery disease in an Iranian... DisGeNET Detail
Haplotype TGTG from adiponectin gene variants 45T/G and 276G/T is related to susceptibility to PCOS,... DisGeNET Detail
Adiponectin gene polymorphisms (T45G and G276T), adiponectin levels and risk for metabolic diseases ... DisGeNET Detail
Association of the T45G polymorphism in exon 2 of the adiponectin gene with polycystic ovary syndrom... DisGeNET Detail
To investigate any association between Type 2 diabetes mellitus and two single nucleotide polymorphi... DisGeNET Detail
A single nucleotide polymorphism (SNP) in the adiponectin gene, 45T/G, has been reported in relation... DisGeNET Detail
Adiponectin multimers and ADIPOQ T45G in coronary artery disease in Caribbean type 2 diabetic subjec... DisGeNET Detail
Our results suggested that the T45G polymorphism of adiponectin gene was not significantly associate... DisGeNET Detail
The T45G and G276T of the adiponectin gene may not be the important determinants of NAFLD in Chinese... DisGeNET Detail
Haplotype TGTG from SNP 45T/G and 276G/T of the adiponectin gene contributes to risk of polycystic o... DisGeNET Detail
Adiponectin multimers and ADIPOQ T45G in coronary artery disease in Caribbean type 2 diabetic subjec... DisGeNET Detail
Association between 45T/G polymorphism of adiponectin gene and coronary artery disease in an Iranian... DisGeNET Detail
ADIPOQ genetic polymorphisms rs2241766 (+45T&gt;G), rs1063537, rs2241767 and rs2082940 were correlat... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr3:186,570,892-186,570,892
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1204
Mean of sample read depth (HGVD)
118.95
Standard deviation of sample read depth (HGVD)
55.71
Number of reference allele (HGVD)
1672
Number of alternative allele (HGVD)
734
Allele Frequency (HGVD)
0.3050706566916043
Gene Symbol (HGVD)
ADIPOQ
East Asian Homozygous Counts (ExAC)
404
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs2241766
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2981
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4996
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8628
East Asian Allele Counts (ExAC)
2648
East Asian Heterozygous Counts (ExAC)
1840
East Asian Allele Frequency (ExAC)
0.30690774223458506
Chromosome Counts in All Race (ExAC)
121330
Allele Counts in All Race (ExAC)
15641
Heterozygous Counts in All Race (ExAC)
13127
Homozygous Counts in All Race (ExAC)
1257
Allele Frequency in All Race (ExAC)
0.12891288222203906
Genome browser