chr22:46614274:C>G Detail (hg19) (PPARA)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr22:46,614,274-46,614,274 |
| hg38 | chr22:46,218,377-46,218,377 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | ||
| Ensemble | ENST00000402126.2:c.484C>G | ENST00000402126.2:p.Leu162Val |
| ENST00000407236.6:c.484C>G | ENST00000407236.6:p.Leu162Val |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2004-01-01 | no assertion criteria provided | Hyperapobetalipoproteinemia, susceptibility to |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.010 | Alzheimer's disease | The PPAR-alpha C --> G polymorphism in exon 5 (L162V) was associated with AD,... | BeFree | 12938026 | Detail |
| 0.009 | Cardiovascular Diseases | Effect of the PPAR-Alpha L162V polymorphism on the cardiovascular disease risk f... | BeFree | 19776627 | Detail |
| 0.002 | Heart failure | Association of the peroxisome proliferator-activated receptor α gene L162V polym... | BeFree | 21430558 | Detail |
| 0.016 | diabetes mellitus | The L162V polymorphism at the peroxisome proliferator activated receptor alpha l... | BeFree | 16221474 | Detail |
| 0.001 | Metabolic syndrome X | The frequency distribution of rare alleles for PPARα (L162V) and PPARγ (P12A and... | BeFree | 21877956 | Detail |
| 0.007 | Metabolic syndrome X | Association between the PPARalpha-L162V polymorphism and components of the metab... | BeFree | 15309680 | Detail |
| 0.003 | Nonalcoholic Steatohepatitis | Peroxisome proliferator-activated receptor alpha L162V polymorphism in nonalcoho... | BeFree | 16297361 | Detail |
| 0.008 | Diabetes | Overall, the PPARalpha haplotype signficantly influenced age at diagnosis (P = 0... | BeFree | 15677519 | Detail |
| 0.132 | Dyslipidemias | The common Leu162Val polymorphism in the gene encoding PPARalpha has inconsisten... | BeFree | 17129741 | Detail |
| 0.003 | Non-alcoholic Fatty Liver Disease | The objective of this study was to analyze the polymorphisms Leu162Val of PPARα ... | BeFree | 23891824 | Detail |
| 0.080 | Diabetes | In the placebo group, the G (162V) allele of rs1800206 increased the risk for di... | BeFree | 17317762 | Detail |
| <0.001 | hepatitis B | Peroxisome proliferator-activated receptor alpha L162V polymorphism tends to occ... | BeFree | 19119483 | Detail |
| 0.012 | Coronary heart disease | The data suggest that the PPARalpha polymorphism L162V might protect against the... | BeFree | 15199365 | Detail |
| 0.016 | diabetes mellitus | Overall, the PPARalpha haplotype signficantly influenced age at diagnosis (P = 0... | BeFree | 15677519 | Detail |
| 0.006 | liver carcinoma | Peroxisome proliferator-activated receptor alpha L162V polymorphism tends to occ... | BeFree | 19119483 | Detail |
| 0.006 | Metabolic syndrome X | This study aimed to investigate the association of peroxisome proliferator-activ... | BeFree | 26673968 | Detail |
| 0.144 | obesity | This study aimed to investigate the association of peroxisome proliferator-activ... | BeFree | 26673968 | Detail |
| 0.002 | congestive heart failure | Association of the peroxisome proliferator-activated receptor α gene L162V polym... | BeFree | 21430558 | Detail |
| 0.007 | HIV Infections | The frequency distribution of rare alleles for PPARα (L162V) and PPARγ (P12A and... | BeFree | 21877956 | Detail |
| 0.124 | Non-alcoholic Fatty Liver Disease | The objective of this study was to analyze the polymorphisms Leu162Val of PPARα ... | BeFree | 23891824 | Detail |
| <0.001 | Myocardial Ischemia | We investigated the association between the leucine 162 to valine (L162V) polymo... | BeFree | 11914252 | Detail |
| 0.154 | Diabetes Mellitus, Non-Insulin-Dependent | The data suggest that the PPARalpha polymorphism L162V might protect against the... | BeFree | 15199365 | Detail |
| 0.133 | obesity | This study aimed to investigate the association of peroxisome proliferator-activ... | BeFree | 26673968 | Detail |
| 0.131 | Fatty Liver | Peroxisome proliferator-activated receptor alpha L162V polymorphism in nonalcoho... | BeFree | 16297361 | Detail |
| 0.003 | Steatohepatitis | Peroxisome proliferator-activated receptor alpha L162V polymorphism in nonalcoho... | BeFree | 16297361 | Detail |
| 0.154 | Diabetes Mellitus, Non-Insulin-Dependent | We suggest that the PPARA L162V polymorphism may have diverse effects on serum l... | BeFree | 23583468 | Detail |
| 0.144 | obesity | Relationships between the functional PPARalpha Leu162Val polymorphism and obesit... | BeFree | 17129741 | Detail |
| 0.020 | atherosclerosis | The data suggest that the PPARalpha polymorphism L162V might protect against the... | BeFree | 15199365 | Detail |
| 0.295 | diabetes mellitus | In the placebo group, the G (162V) allele of rs1800206 increased the risk for di... | BeFree | 17317762 | Detail |
| 0.004 | hepatitis C | Peroxisome proliferator-activated receptor alpha L162V polymorphism in nonalcoho... | BeFree | 16297361 | Detail |
| 0.003 | multiple sclerosis | We investigated the association of two common single nucleotide polymorphisms in... | BeFree | 18977277 | Detail |
| 0.154 | Diabetes Mellitus, Non-Insulin-Dependent | In conclusion, in a relative large-scale study of middle-aged whites we found no... | BeFree | 17129741 | Detail |
| <0.001 | lipodystrophy | The rare g allele for L162V was found in 15% of patients free of any sign of lip... | BeFree | 21877956 | Detail |
| 0.005 | arteriosclerosis | The data suggest that the PPARalpha polymorphism L162V might protect against the... | BeFree | 15199365 | Detail |
| 0.154 | Diabetes Mellitus, Non-Insulin-Dependent | A polymorphism, L162V, in the peroxisome proliferator-activated receptor alpha (... | BeFree | 11409711 | Detail |
| 0.132 | Dyslipidemias | The present study was performed to evaluate the association between the PPARalph... | BeFree | 15199365 | Detail |
| <0.001 | arteriosclerosis | We investigated the association between the leucine 162 to valine (L162V) polymo... | BeFree | 11914252 | Detail |
| <0.001 | atherosclerosis | We investigated the association between the leucine 162 to valine (L162V) polymo... | BeFree | 11914252 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_005036.6(PPARA):c.484C>G (p.Leu162Val) AND Hyperapobetalipoproteinemia, susceptibility to | ClinVar | Detail |
| The PPAR-alpha C --> G polymorphism in exon 5 (L162V) was associated with AD, in that the V-allel... | DisGeNET | Detail |
| Effect of the PPAR-Alpha L162V polymorphism on the cardiovascular disease risk factor in response to... | DisGeNET | Detail |
| Association of the peroxisome proliferator-activated receptor α gene L162V polymorphism with stage C... | DisGeNET | Detail |
| The L162V polymorphism at the peroxisome proliferator activated receptor alpha locus modulates the r... | DisGeNET | Detail |
| The frequency distribution of rare alleles for PPARα (L162V) and PPARγ (P12A and H449H) was compared... | DisGeNET | Detail |
| Association between the PPARalpha-L162V polymorphism and components of the metabolic syndrome. | DisGeNET | Detail |
| Peroxisome proliferator-activated receptor alpha L162V polymorphism in nonalcoholic steatohepatitis ... | DisGeNET | Detail |
| Overall, the PPARalpha haplotype signficantly influenced age at diagnosis (P = 0.027), with the C-L-... | DisGeNET | Detail |
| The common Leu162Val polymorphism in the gene encoding PPARalpha has inconsistently shown associatio... | DisGeNET | Detail |
| The objective of this study was to analyze the polymorphisms Leu162Val of PPARα and Pro12Ala of PPAR... | DisGeNET | Detail |
| In the placebo group, the G (162V) allele of rs1800206 increased the risk for diabetes by 1.9-fold (... | DisGeNET | Detail |
| Peroxisome proliferator-activated receptor alpha L162V polymorphism tends to occur in HBV-induced he... | DisGeNET | Detail |
| The data suggest that the PPARalpha polymorphism L162V might protect against the development of athe... | DisGeNET | Detail |
| Overall, the PPARalpha haplotype signficantly influenced age at diagnosis (P = 0.027), with the C-L-... | DisGeNET | Detail |
| Peroxisome proliferator-activated receptor alpha L162V polymorphism tends to occur in HBV-induced he... | DisGeNET | Detail |
| This study aimed to investigate the association of peroxisome proliferator-activated receptor (PPAR)... | DisGeNET | Detail |
| This study aimed to investigate the association of peroxisome proliferator-activated receptor (PPAR)... | DisGeNET | Detail |
| Association of the peroxisome proliferator-activated receptor α gene L162V polymorphism with stage C... | DisGeNET | Detail |
| The frequency distribution of rare alleles for PPARα (L162V) and PPARγ (P12A and H449H) was compared... | DisGeNET | Detail |
| The objective of this study was to analyze the polymorphisms Leu162Val of PPARα and Pro12Ala of PPAR... | DisGeNET | Detail |
| We investigated the association between the leucine 162 to valine (L162V) polymorphism and a G to C ... | DisGeNET | Detail |
| The data suggest that the PPARalpha polymorphism L162V might protect against the development of athe... | DisGeNET | Detail |
| This study aimed to investigate the association of peroxisome proliferator-activated receptor (PPAR)... | DisGeNET | Detail |
| Peroxisome proliferator-activated receptor alpha L162V polymorphism in nonalcoholic steatohepatitis ... | DisGeNET | Detail |
| Peroxisome proliferator-activated receptor alpha L162V polymorphism in nonalcoholic steatohepatitis ... | DisGeNET | Detail |
| We suggest that the PPARA L162V polymorphism may have diverse effects on serum lipids and CHD risk d... | DisGeNET | Detail |
| Relationships between the functional PPARalpha Leu162Val polymorphism and obesity, type 2 diabetes, ... | DisGeNET | Detail |
| The data suggest that the PPARalpha polymorphism L162V might protect against the development of athe... | DisGeNET | Detail |
| In the placebo group, the G (162V) allele of rs1800206 increased the risk for diabetes by 1.9-fold (... | DisGeNET | Detail |
| Peroxisome proliferator-activated receptor alpha L162V polymorphism in nonalcoholic steatohepatitis ... | DisGeNET | Detail |
| We investigated the association of two common single nucleotide polymorphisms in the PPARA (Leu162Va... | DisGeNET | Detail |
| In conclusion, in a relative large-scale study of middle-aged whites we found no evidence of associa... | DisGeNET | Detail |
| The rare g allele for L162V was found in 15% of patients free of any sign of lipodystrophy and 8% wi... | DisGeNET | Detail |
| The data suggest that the PPARalpha polymorphism L162V might protect against the development of athe... | DisGeNET | Detail |
| A polymorphism, L162V, in the peroxisome proliferator-activated receptor alpha (PPARalpha) gene is a... | DisGeNET | Detail |
| The present study was performed to evaluate the association between the PPARalpha polymorphism L162V... | DisGeNET | Detail |
| We investigated the association between the leucine 162 to valine (L162V) polymorphism and a G to C ... | DisGeNET | Detail |
| We investigated the association between the leucine 162 to valine (L162V) polymorphism and a G to C ... | 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
- rs1800206 dbSNP
- Genome
- hg19
- Position
- chr22:46,614,274-46,614,274
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- 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))
- rs1800206
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8654
- East Asian Allele Counts (ExAC)
- 1
- East Asian Heterozygous Counts (ExAC)
- 1
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 1.1555350127108852E-4
- Chromosome Counts in All Race (ExAC)
- 121410
- Allele Counts in All Race (ExAC)
- 5155
- Heterozygous Counts in All Race (ExAC)
- 4853
- Homozygous Counts in All Race (ExAC)
- 151
- Allele Frequency in All Race (ExAC)
- 0.04245943497240755
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