chr16:53769662:T>A Detail (hg38) (FTO)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:53,803,574-53,803,574 View the variant detail on this assembly version. |
| hg38 | chr16:53,769,662-53,769,662 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001080432.2:c.46-40478T>A | |
| Ensemble | ENST00000471389.6:c.46-40478T>A | |
| ENST00000636218.1:c.46-40478T>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.194 | |
| 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 |
|---|---|---|---|---|---|
| 0.400 | obesity | Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and p... | GWASCAT | 23563607 | Detail |
| 0.400 | obesity | Our data confirm the role of FTO in obesity predisposition among Chinese, Malays... | GWASCAT | 21544081 | Detail |
| 0.400 | obesity | [Our data confirm the role of FTO in obesity predisposition among Chinese, Malay... | GAD | 21544081 | Detail |
| 0.400 | obesity | We genotyped FTO variants rs1558902 and rs9939609 and measured insulin resistanc... | BeFree | 25761503 | Detail |
| 0.400 | obesity | We observed that genetic variants in or near FTO, MC4R, TMEM18, SDCCAG8, and TNK... | GWASCAT | 20421936 | Detail |
| 0.013 | Overweight | We genotyped FTO variants rs1558902 and rs9939609 and measured insulin resistanc... | BeFree | 25761503 | 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 |
|---|---|---|
| Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights int... | DisGeNET | Detail |
| Our data confirm the role of FTO in obesity predisposition among Chinese, Malays and Indians, the th... | DisGeNET | Detail |
| [Our data confirm the role of FTO in obesity predisposition among Chinese, Malays and Indians, the t... | DisGeNET | Detail |
| We genotyped FTO variants rs1558902 and rs9939609 and measured insulin resistance in fasting plasma ... | DisGeNET | Detail |
| We observed that genetic variants in or near FTO, MC4R, TMEM18, SDCCAG8, and TNKS/MSRA were robustly... | DisGeNET | Detail |
| We genotyped FTO variants rs1558902 and rs9939609 and measured insulin resistance in fasting plasma ... | 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
- rs1558902 dbSNP
- Genome
- hg38
- Position
- chr16:53,769,662-53,769,662
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- A
- 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))
- rs1558902
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1945
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3259
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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