chr3:186571123:G>T Detail (hg19) (ADIPOQ)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:186,571,123-186,571,123 |
| hg38 | chr3:186,853,334-186,853,334 View the variant detail on this assembly version. |
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 | |
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>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>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>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
| Descrption | Source | Links |
|---|---|---|
| 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>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>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>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
- hg19
- Position
- chr3:186,571,123-186,571,123
- 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
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