chr3:12371840:T>G Detail (hg38) (PPARG)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:12,413,339-12,413,339 View the variant detail on this assembly version. |
| hg38 | chr3:12,371,840-12,371,840 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_015869.4:c.83-7864T>G | |
| NM_138712.3:c.-8-7864T>G | ||
| NM_005037.5:c.-8-7864T>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.023 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.042 |
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 | premature menopause | Four SNPs (rs2167270 of LEP and rs1801282, rs2120825, and rs3856806 of PPARγ) we... | BeFree | 22537818 | Detail |
| <0.001 | premature menopause | Four SNPs (rs2167270 of LEP and rs1801282, rs2120825, and rs3856806 of PPARγ) we... | BeFree | 22537818 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Four SNPs (rs2167270 of LEP and rs1801282, rs2120825, and rs3856806 of PPARγ) were associated with e... | DisGeNET | Detail |
| Four SNPs (rs2167270 of LEP and rs1801282, rs2120825, and rs3856806 of PPARγ) were associated with e... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2120825 dbSNP
- Genome
- hg38
- Position
- chr3:12,371,840-12,371,840
- Variant Type
- snv
- Reference Allele
- T
- 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))
- rs2120825
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0225
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 377
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 212
- East Asian Allele Counts (ExAC)
- 9
- East Asian Heterozygous Counts (ExAC)
- 9
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.04245283018867924
- Chromosome Counts in All Race (ExAC)
- 12590
- Allele Counts in All Race (ExAC)
- 1415
- Heterozygous Counts in All Race (ExAC)
- 1235
- Homozygous Counts in All Race (ExAC)
- 90
- Allele Frequency in All Race (ExAC)
- 0.11239078633836377
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