chr16:53766656:G>A Detail (hg38) (FTO)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr16:53,800,568-53,800,568 View the variant detail on this assembly version. |
hg38 | chr16:53,766,656-53,766,656 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001080432.2:c.46-43484G>A | |
Ensemble | ENST00000471389.6:c.46-43484G>A | |
ENST00000636218.1:c.46-43484G>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.224 | |
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 |
---|---|---|---|---|---|
<0.001 | Diabetes Mellitus, Non-Insulin-Dependent | Through an exhaustive search of pair-wise interactions and a selected search of ... | BeFree | 23626757 | Detail |
<0.001 | Diabetes Mellitus, Non-Insulin-Dependent | Through an exhaustive search of pair-wise interactions and a selected search of ... | BeFree | 23626757 | Detail |
0.341 | Diabetes Mellitus, Non-Insulin-Dependent | Through an exhaustive search of pair-wise interactions and a selected search of ... | BeFree | 23626757 | Detail |
<0.001 | Diabetes Mellitus, Non-Insulin-Dependent | Through an exhaustive search of pair-wise interactions and a selected search of ... | BeFree | 23626757 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
Through an exhaustive search of pair-wise interactions and a selected search of three- to five-way i... | DisGeNET | Detail |
Through an exhaustive search of pair-wise interactions and a selected search of three- to five-way i... | DisGeNET | Detail |
Through an exhaustive search of pair-wise interactions and a selected search of three- to five-way i... | DisGeNET | Detail |
Through an exhaustive search of pair-wise interactions and a selected search of three- to five-way i... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs9939973 dbSNP
- Genome
- hg38
- Position
- chr16:53,766,656-53,766,656
- Variant Type
- snv
- Reference Allele
- G
- 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))
- rs9939973
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.2236
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3748
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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