chr6:50803050:A>G Detail (hg19) (TFAP2B)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:50,803,050-50,803,050 |
| hg38 | chr6:50,835,337-50,835,337 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_003221.3:c.602-724A>G | |
| Ensemble | ENST00000393655.4:c.602-724A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.208 | |
| 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 |
|---|---|---|---|---|---|
| 0.791 | obesity | Furthermore, logistic regression showed that MC4R rs12970134 and TFAP2B rs987237... | BeFree | 24670271 | Detail |
| <0.001 | Obesity, Abdominal | The MSRA rs545854 and TFAP2B rs987237 showed nominal associations with central o... | BeFree | 21674055 | Detail |
| <0.001 | Obesity, Abdominal | Two meta-analyses of genome-wide association studies (GWAS) have suggested that ... | BeFree | 21674055 | Detail |
| 0.127 | patent ductus arteriosus | [Overall, our data support a role for genetic variations in transcription factor... | GAD | 19336370 | Detail |
| 0.126 | obesity | The variants near TFAP2B appear to influence central adiposity through an effect... | GWASCAT | 19557161 | Detail |
| 0.126 | obesity | TFAP2B rs987237 is associated with obesity and has shown interaction with the di... | BeFree | 24081236 | Detail |
| 0.126 | obesity | [The variants near TFAP2B appear to influence central adiposity through an effec... | GAD | 19557161 | Detail |
| 0.014 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| <0.001 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| 0.121 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| 0.150 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| 0.162 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| 0.021 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| 0.791 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| 0.126 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
| <0.001 | obesity | Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4... | BeFree | 22041983 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Furthermore, logistic regression showed that MC4R rs12970134 and TFAP2B rs987237 were nominally, res... | DisGeNET | Detail |
| The MSRA rs545854 and TFAP2B rs987237 showed nominal associations with central obesity; however, no ... | DisGeNET | Detail |
| Two meta-analyses of genome-wide association studies (GWAS) have suggested that four variants: rs260... | DisGeNET | Detail |
| [Overall, our data support a role for genetic variations in transcription factor AP-2 beta, tumor ne... | DisGeNET | Detail |
| The variants near TFAP2B appear to influence central adiposity through an effect on overall obesity/... | DisGeNET | Detail |
| TFAP2B rs987237 is associated with obesity and has shown interaction with the dietary fat-to-carbohy... | DisGeNET | Detail |
| [The variants near TFAP2B appear to influence central adiposity through an effect on overall obesity... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
| Eight loci, rs10968576 (BDNF), rs3817334 (MTCH2), rs1558902 (FTO), rs571312 (MC4R), rs543874 (SEC16B... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs987237 dbSNP
- Genome
- hg19
- Position
- chr6:50,803,050-50,803,050
- Variant Type
- snv
- Reference Allele
- A
- 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))
- rs987237
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2082
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3490
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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