chr3:186853334:G>T Detail (hg38) (ADIPOQ)

Information

Genome

Assembly Position
hg19 chr3:186,571,123-186,571,123 View the variant detail on this assembly version.
hg38 chr3:186,853,334-186,853,334

HGVS

Type Transcript Protein
RefSeq NM_004797.3:c.214+62G>T
NM_001177800.1:c.214+62G>T
Ensemble ENST00000320741.7:c.214+62G>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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 tgv15449629 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 Ovarian Diseases Three variants, rs3797179 (SRD5A1), rs12473543 (POMC), and rs1501299 (ADIPOQ), w... BeFree 23375202 Detail
0.004 pancreatic carcinoma We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
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
0.020 Cardiovascular Diseases Recessive protective effect of ADIPOQ rs1501299 on cardiovascular diseases with ... BeFree 22040602 Detail
0.003 Pediatric Obesity ADIPOQ gene polymorphism rs1501299 interacts with fibre intake to affect adipone... BeFree 19543786 Detail
<0.001 pancreatic carcinoma We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
0.002 Glucose Metabolism Disorders [Our results suggest that combining genetic markers with traditional clinical ri... GAD 20384434 Detail
0.018 Coronary heart disease Association of the adiponectin gene rs1501299 G&gt;T variant, serum adiponectin ... BeFree 22748670 Detail
0.049 coronary artery disease rs1501299 polymorphism of adiponectin gene affects circulating adiponectin level... BeFree 23041095 Detail
0.003 Malignant neoplasm of breast We found that rs1501299, a functional SNP of ADIPOQ that we previously reported ... BeFree 23624817 Detail
0.322 Diabetes Mellitus, Non-Insulin-Dependent Recessive protective effect of ADIPOQ rs1501299 on cardiovascular diseases with ... BeFree 22040602 Detail
<0.001 pancreatic carcinoma Our case-control study indicates that rs1501299 in the ADIPOQ gene may be associ... BeFree 25516658 Detail
0.020 Cardiovascular Diseases Lack of association between ADIPOQ rs266729 and ADIPOQ rs1501299 polymorphisms a... BeFree 21073447 Detail
0.001 liver carcinoma The adiponectin gene single-nucleotide polymorphism rs1501299 is associated with... BeFree 23740135 Detail
<0.001 pancreatic carcinoma We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
0.129 rheumatoid arthritis Therefore, ADIPOQ rs266729 and rs1501299 polymorphisms do not seem to be associa... BeFree 21073447 Detail
<0.001 colon carcinoma We evaluated the association of four insulin-related pathway gene polymorphisms ... BeFree 22565227 Detail
0.322 Diabetes Mellitus, Non-Insulin-Dependent [The analyses showed that age (P < 0.0001), BMI (P < 0.0001), and six variants (... GAD 20384434 Detail
<0.001 Malignant neoplasm of pancreas We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 Adenocarcinoma Of Esophagus Although several SNPs seemed to be associated with EAC on crude analysis [ADIPOQ... BeFree 18398047 Detail
0.049 coronary artery disease Association of the adiponectin gene rs1501299 G&gt;T variant, serum adiponectin ... BeFree 22748670 Detail
<0.001 Malignant neoplasm of pancreas We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 Adenocarcinoma Of Esophagus Although several SNPs seemed to be associated with EAC on crude analysis [ADIPOQ... BeFree 18398047 Detail
<0.001 Malignant neoplasm of pancreas Our case-control study indicates that rs1501299 in the ADIPOQ gene may be associ... BeFree 25516658 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
0.022 Coronary Arteriosclerosis Association of the adiponectin gene rs1501299 G&gt;T variant, serum adiponectin ... BeFree 22748670 Detail
<0.001 Malignant neoplasm of pancreas We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
0.003 Malignant neoplasm of pancreas We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 Adenocarcinoma Of Esophagus Although several SNPs seemed to be associated with EAC on crude analysis [ADIPOQ... BeFree 18398047 Detail
<0.001 depressive disorder A longitudinal study of the association of adiponectin gene rs1501299 with depre... BeFree 25597795 Detail
<0.001 pancreatic carcinoma We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
0.001 breast carcinoma We found that rs1501299, a functional SNP of ADIPOQ that we previously reported ... BeFree 23624817 Detail
<0.001 Malignant neoplasm of pancreas We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
<0.001 Mental Depression A longitudinal study of the association of adiponectin gene rs1501299 with depre... BeFree 25597795 Detail
<0.001 pancreatic carcinoma We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADI... BeFree 25516658 Detail
0.305 obesity We explored potential associations of two single nucleotide polymorphisms (SNPs)... BeFree 19755407 Detail
<0.001 Malignant tumor of colon We evaluated the association of four insulin-related pathway gene polymorphisms ... BeFree 22565227 Detail
Annotation

Annotations

DescrptionSourceLinks
Three variants, rs3797179 (SRD5A1), rs12473543 (POMC), and rs1501299 (ADIPOQ), were nominally associ... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET 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
Recessive protective effect of ADIPOQ rs1501299 on cardiovascular diseases with type 2 diabetes: a m... DisGeNET Detail
ADIPOQ gene polymorphism rs1501299 interacts with fibre intake to affect adiponectin concentration i... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
[Our results suggest that combining genetic markers with traditional clinical risk factors has the p... DisGeNET Detail
Association of the adiponectin gene rs1501299 G&gt;T variant, serum adiponectin levels, and the risk... DisGeNET Detail
rs1501299 polymorphism of adiponectin gene affects circulating adiponectin levels and endothelial fu... DisGeNET Detail
We found that rs1501299, a functional SNP of ADIPOQ that we previously reported was associated with ... DisGeNET Detail
Recessive protective effect of ADIPOQ rs1501299 on cardiovascular diseases with type 2 diabetes: a m... DisGeNET Detail
Our case-control study indicates that rs1501299 in the ADIPOQ gene may be associated with pancreatic... DisGeNET Detail
Lack of association between ADIPOQ rs266729 and ADIPOQ rs1501299 polymorphisms and cardiovascular di... DisGeNET Detail
The adiponectin gene single-nucleotide polymorphism rs1501299 is associated with hepatocellular carc... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
Therefore, ADIPOQ rs266729 and rs1501299 polymorphisms do not seem to be associated with cardiovascu... DisGeNET Detail
We evaluated the association of four insulin-related pathway gene polymorphisms in insulin-like grow... DisGeNET Detail
[The analyses showed that age (P < 0.0001), BMI (P < 0.0001), and six variants (IGF2BP2 rs4402960, P... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
Although several SNPs seemed to be associated with EAC on crude analysis [ADIPOQ (rs1501299), LEP (5... DisGeNET Detail
Association of the adiponectin gene rs1501299 G&gt;T variant, serum adiponectin levels, and the risk... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
Although several SNPs seemed to be associated with EAC on crude analysis [ADIPOQ (rs1501299), LEP (5... DisGeNET Detail
Our case-control study indicates that rs1501299 in the ADIPOQ gene may be associated with pancreatic... 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
Association of the adiponectin gene rs1501299 G&gt;T variant, serum adiponectin levels, and the risk... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
Although several SNPs seemed to be associated with EAC on crude analysis [ADIPOQ (rs1501299), LEP (5... DisGeNET Detail
A longitudinal study of the association of adiponectin gene rs1501299 with depression in Chinese Han... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We found that rs1501299, a functional SNP of ADIPOQ that we previously reported was associated with ... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
A longitudinal study of the association of adiponectin gene rs1501299 with depression in Chinese Han... DisGeNET Detail
We genotyped 7 single-nucleotide polymorphisms (SNPs) in PPARG2 (rs1801282), ADIPOQ (rs1501299), ADR... DisGeNET Detail
We explored potential associations of two single nucleotide polymorphisms (SNPs) in the adiponectin ... DisGeNET Detail
We evaluated the association of four insulin-related pathway gene polymorphisms in insulin-like grow... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1501299 dbSNP
Genome
hg38
Position
chr3:186,853,334-186,853,334
Variant Type
snv
Reference Allele
G
Alternative Allele
T
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))
rs1501299
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2979
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4993
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser