chr3:12475557:C>T Detail (hg19) (PPARG)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:12,475,557-12,475,557 |
hg38 | chr3:12,434,058-12,434,058 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_138712.3:c.1341C>T | NP_619726.2:p.His447= |
NM_005037.5:c.1341C>T | NP_005028.4:p.His447= | |
NM_015869.4:c.1431C>T | NP_056953.2:p.His477= |
Summary
MGeND
Clinical significance |
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Variant entry | 2 |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:0.160 |
ToMMo:0.146 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:0.239 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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fundus of stomach |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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Centenarian |
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MGS000068
(TMGS000140) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2000-06-01 | no assertion criteria provided | Glioma susceptibility 1 |
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Detail |
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no assertion criteria provided | not specified |
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Detail | |
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2017-04-27 | criteria provided, single submitter | Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension |
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Detail |
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2017-04-27 | criteria provided, single submitter | PPARG-related familial partial lipodystrophy |
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Detail |
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2017-04-27 | criteria provided, single submitter | obesity |
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Detail |
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2024-01-31 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2003-12-01 | no assertion criteria provided | PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA POLYMORPHISM |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.145 | Metabolic syndrome X | Analysis of the haplotype and linkage disequilibrium of PPARγ gene polymorphisms... | BeFree | 25366759 | Detail |
0.022 | Malignant neoplasm of breast | Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in P... | BeFree | 24338422 | Detail |
0.008 | breast carcinoma | Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in P... | BeFree | 24338422 | Detail |
0.127 | Obesity, Morbid | In this study, we investigated the association of PPAR-γ gene Pro12Ala (rs180128... | BeFree | 22410809 | Detail |
0.163 | diabetes mellitus | Differential effects of the C1431T and Pro12Ala PPARgamma gene variants on plasm... | BeFree | 14729856 | Detail |
0.439 | obesity | The association of the C1431T silent mutation and the Pro12Ala missense transver... | BeFree | 18250615 | Detail |
0.258 | Hypertensive disease | To explore the relationship between the genetic polymorphisms of PPARgamma (Pro1... | BeFree | 19651920 | Detail |
<0.001 | premature menopause | Four SNPs (rs2167270 of LEP and rs1801282, rs2120825, and rs3856806 of PPARγ) we... | BeFree | 22537818 | Detail |
0.393 | Diabetes Mellitus, Non-Insulin-Dependent | Association of the Pro12Ala and C1431T variants of PPARG and their haplotypes wi... | BeFree | 14730381 | Detail |
0.017 | Diabetes | Differential effects of the C1431T and Pro12Ala PPARgamma gene variants on plasm... | BeFree | 14729856 | Detail |
<0.001 | premature menopause | Four SNPs (rs2167270 of LEP and rs1801282, rs2120825, and rs3856806 of PPARγ) we... | BeFree | 22537818 | Detail |
0.163 | diabetes mellitus | Another PPARγ polymorphism, the C1431T, is in strong linkage disequilibrium with... | BeFree | 21795447 | Detail |
0.007 | gestational diabetes | Association of the Pro12Ala and C1431T variants of PPARgamma and their haplotype... | BeFree | 21795447 | Detail |
0.145 | Metabolic syndrome X | Associations between C1431T and Pro12Ala variants of PPARγ gene and their haplot... | BeFree | 24464185 | Detail |
0.017 | Diabetes | Another PPARγ polymorphism, the C1431T, is in strong linkage disequilibrium with... | BeFree | 21795447 | Detail |
0.010 | Coronary Arteriosclerosis | Association between C1431T polymorphism in peroxisome proliferator-activated rec... | BeFree | 21643757 | Detail |
0.017 | Diabetes | The C1431T polymorphism in peroxisome proliferator-activated receptor-γ (PPARγ) ... | BeFree | 21643757 | Detail |
0.145 | Metabolic syndrome X | The C1431T polymorphism of peroxisome proliferator activated receptor-γ (PPAR-γ)... | BeFree | 25896411 | Detail |
0.010 | Coronary Arteriosclerosis | Impact of the C1431T Polymorphism of the Peroxisome Proliferator Activated Recep... | BeFree | 25896411 | Detail |
0.017 | Diabetes | The C1431T polymorphism of peroxisome proliferator activated receptor-γ (PPAR-γ)... | BeFree | 25896411 | Detail |
0.039 | colorectal cancer | On the contrary, two other SNPs, PLA2G2A c.435+230C>T and PPARG c.1431C>T ... | BeFree | 18992148 | Detail |
0.128 | Dyslipidemias | We investigated the association of PPAR-γ C1431T-polymorphism with CAD and dysli... | BeFree | 25896411 | Detail |
0.439 | obesity | The C1431T polymorphism in peroxisome proliferator-activated receptor-γ (PPARγ) ... | BeFree | 21643757 | Detail |
0.020 | coronary artery disease | Impact of the C1431T Polymorphism of the Peroxisome Proliferator Activated Recep... | BeFree | 25896411 | Detail |
0.026 | Coronary heart disease | Association between C1431T polymorphism in peroxisome proliferator-activated rec... | BeFree | 21643757 | Detail |
0.006 | colorectal cancer | On the contrary, two other SNPs, PLA2G2A c.435+230C>T and PPARG c.1431C>T ... | BeFree | 18992148 | Detail |
0.145 | Metabolic syndrome X | The C1431T polymorphism in peroxisome proliferator-activated receptor-γ (PPARγ) ... | BeFree | 21643757 | Detail |
0.020 | coronary artery disease | Association between C1431T polymorphism in peroxisome proliferator-activated rec... | BeFree | 21643757 | Detail |
0.026 | Coronary heart disease | Impact of the C1431T Polymorphism of the Peroxisome Proliferator Activated Recep... | BeFree | 25896411 | Detail |
0.163 | diabetes mellitus | The C1431T polymorphism in peroxisome proliferator-activated receptor-γ (PPARγ) ... | BeFree | 21643757 | Detail |
0.163 | diabetes mellitus | The C1431T polymorphism of peroxisome proliferator activated receptor-γ (PPAR-γ)... | BeFree | 25896411 | Detail |
0.145 | Metabolic syndrome X | We concluded that the CC genotype of C1431T in the PPARγ2 gene together with low... | BeFree | 21156835 | Detail |
0.002 | Diabetes | A total of 792 patients with T2DM were enrolled and categorized into two groups:... | BeFree | 25274455 | Detail |
<0.001 | Retinal Diseases | A total of 792 patients with T2DM were enrolled and categorized into two groups:... | BeFree | 25274455 | Detail |
<0.001 | Retinal Diseases | A total of 792 patients with T2DM were enrolled and categorized into two groups:... | BeFree | 25274455 | Detail |
0.002 | diabetes mellitus | A total of 792 patients with T2DM were enrolled and categorized into two groups:... | BeFree | 25274455 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_138711.6(PPARG):c.1341C>T (p.His447=) AND Glioma susceptibility 1 | ClinVar | Detail |
NM_138711.6(PPARG):c.1341C>T (p.His447=) AND not specified | ClinVar | Detail |
NM_138711.6(PPARG):c.1341C>T (p.His447=) AND Diabetes Mellitus, Noninsulin-Dependent, with Acanthosi... | ClinVar | Detail |
NM_138711.6(PPARG):c.1341C>T (p.His447=) AND PPARG-related familial partial lipodystrophy | ClinVar | Detail |
NM_138711.6(PPARG):c.1341C>T (p.His447=) AND Obesity | ClinVar | Detail |
NM_138711.6(PPARG):c.1341C>T (p.His447=) AND not provided | ClinVar | Detail |
NM_138711.6(PPARG):c.1341C>T (p.His447=) AND PEROXISOME PROLIFERATOR-ACTIVATED RECEPTOR-GAMMA POLYMO... | ClinVar | Detail |
Analysis of the haplotype and linkage disequilibrium of PPARγ gene polymorphisms rs3856806, rs124902... | DisGeNET | Detail |
Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in POU5F1P1, rs989902 in... | DisGeNET | Detail |
Seven single nucleotide polymorphisms (SNPs) (rs3856806 in PPARG, rs7014346 in POU5F1P1, rs989902 in... | DisGeNET | Detail |
In this study, we investigated the association of PPAR-γ gene Pro12Ala (rs1801282) and C1431T (rs385... | DisGeNET | Detail |
Differential effects of the C1431T and Pro12Ala PPARgamma gene variants on plasma lipids and diabete... | DisGeNET | Detail |
The association of the C1431T silent mutation and the Pro12Ala missense transversion within the PPAR... | DisGeNET | Detail |
To explore the relationship between the genetic polymorphisms of PPARgamma (Pro12Ala, C1431T, and C-... | DisGeNET | Detail |
Four SNPs (rs2167270 of LEP and rs1801282, rs2120825, and rs3856806 of PPARγ) were associated with e... | DisGeNET | Detail |
Association of the Pro12Ala and C1431T variants of PPARG and their haplotypes with susceptibility to... | DisGeNET | Detail |
Differential effects of the C1431T and Pro12Ala PPARgamma gene variants on plasma lipids and diabete... | DisGeNET | Detail |
Four SNPs (rs2167270 of LEP and rs1801282, rs2120825, and rs3856806 of PPARγ) were associated with e... | DisGeNET | Detail |
Another PPARγ polymorphism, the C1431T, is in strong linkage disequilibrium with Pro12Ala and has be... | DisGeNET | Detail |
Association of the Pro12Ala and C1431T variants of PPARgamma and their haplotypes with susceptibilit... | DisGeNET | Detail |
Associations between C1431T and Pro12Ala variants of PPARγ gene and their haplotypes with susceptibi... | DisGeNET | Detail |
Another PPARγ polymorphism, the C1431T, is in strong linkage disequilibrium with Pro12Ala and has be... | DisGeNET | Detail |
Association between C1431T polymorphism in peroxisome proliferator-activated receptor-γ gene and cor... | DisGeNET | Detail |
The C1431T polymorphism in peroxisome proliferator-activated receptor-γ (PPARγ) has been shown to be... | DisGeNET | Detail |
The C1431T polymorphism of peroxisome proliferator activated receptor-γ (PPAR-γ) gene is related to ... | DisGeNET | Detail |
Impact of the C1431T Polymorphism of the Peroxisome Proliferator Activated Receptor-Gamma (PPAR-γ) G... | DisGeNET | Detail |
The C1431T polymorphism of peroxisome proliferator activated receptor-γ (PPAR-γ) gene is related to ... | DisGeNET | Detail |
On the contrary, two other SNPs, PLA2G2A c.435+230C>T and PPARG c.1431C>T (p.His477His), were ... | DisGeNET | Detail |
We investigated the association of PPAR-γ C1431T-polymorphism with CAD and dyslipidaemia in 787 indi... | DisGeNET | Detail |
The C1431T polymorphism in peroxisome proliferator-activated receptor-γ (PPARγ) has been shown to be... | DisGeNET | Detail |
Impact of the C1431T Polymorphism of the Peroxisome Proliferator Activated Receptor-Gamma (PPAR-γ) G... | DisGeNET | Detail |
Association between C1431T polymorphism in peroxisome proliferator-activated receptor-γ gene and cor... | DisGeNET | Detail |
On the contrary, two other SNPs, PLA2G2A c.435+230C>T and PPARG c.1431C>T (p.His477His), were ... | DisGeNET | Detail |
The C1431T polymorphism in peroxisome proliferator-activated receptor-γ (PPARγ) has been shown to be... | DisGeNET | Detail |
Association between C1431T polymorphism in peroxisome proliferator-activated receptor-γ gene and cor... | DisGeNET | Detail |
Impact of the C1431T Polymorphism of the Peroxisome Proliferator Activated Receptor-Gamma (PPAR-γ) G... | DisGeNET | Detail |
The C1431T polymorphism in peroxisome proliferator-activated receptor-γ (PPARγ) has been shown to be... | DisGeNET | Detail |
The C1431T polymorphism of peroxisome proliferator activated receptor-γ (PPAR-γ) gene is related to ... | DisGeNET | Detail |
We concluded that the CC genotype of C1431T in the PPARγ2 gene together with low cardiorespiratory f... | DisGeNET | Detail |
A total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group co... | DisGeNET | Detail |
A total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group co... | DisGeNET | Detail |
A total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group co... | DisGeNET | Detail |
A total of 792 patients with T2DM were enrolled and categorized into two groups: (1) the DR group co... | 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
- -
- dbSNP
- rs3856806 dbSNP
- Genome
- hg19
- Position
- chr3:12,475,557-12,475,557
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 105.98
- Standard deviation of sample read depth (HGVD)
- 51.45
- Number of reference allele (HGVD)
- 2032
- Number of alternative allele (HGVD)
- 388
- Allele Frequency (HGVD)
- 0.16033057851239668
- Gene Symbol (HGVD)
- PPARG
- 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))
- rs3856806
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1459
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2446
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8618
- East Asian Allele Counts (ExAC)
- 2058
- East Asian Heterozygous Counts (ExAC)
- 1580
- East Asian Homozygous Counts (ExAC)
- 239
- East Asian Allele Frequency (ExAC)
- 0.2388025063819912
- Chromosome Counts in All Race (ExAC)
- 121200
- Allele Counts in All Race (ExAC)
- 16239
- Heterozygous Counts in All Race (ExAC)
- 13731
- Homozygous Counts in All Race (ExAC)
- 1254
- Allele Frequency in All Race (ExAC)
- 0.1339851485148515
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