chr3:12470239:A>C Detail (hg19) (PPARG)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:12,470,239-12,470,239 |
hg38 | chr3:12,428,740-12,428,740 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_015869.4:c.1271-5158A>C | |
NM_138712.3:c.1181-5158A>C | ||
NM_005037.5:c.1181-5158A>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.429 | |
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 |
---|---|---|---|---|---|
0.145 | Metabolic syndrome X | Analysis of the haplotype and linkage disequilibrium of PPARγ gene polymorphisms... | BeFree | 25366759 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Analysis of the haplotype and linkage disequilibrium of PPARγ gene polymorphisms rs3856806, rs124902... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs1797912 dbSNP
- Genome
- hg19
- Position
- chr3:12,470,239-12,470,239
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- C
- 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))
- rs1797912
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.429
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7190
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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