chr20:44360627:G>A Detail (hg38) (HNF4A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr20:42,989,267-42,989,267 View the variant detail on this assembly version. |
| hg38 | chr20:44,360,627-44,360,627 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001030003.2:c.49+4774G>A | |
| NM_175914.4:c.49+4774G>A | ||
| NM_001030004.2:c.49+4774G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.461 | |
| 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 |
|---|---|---|---|---|---|
| 0.608 | Diabetes Mellitus, Non-Insulin-Dependent | We genotyped 11,319 Japanese participants (8,318 with type 2 diabetes and 3,001 ... | BeFree | 23029454 | Detail |
| 0.608 | Diabetes Mellitus, Non-Insulin-Dependent | In the combined analysis, we identified common genetic variants at six loci (GRB... | GWASCAT | 21874001 | Detail |
| 0.608 | Diabetes Mellitus, Non-Insulin-Dependent | [In the combined analysis, we identified common genetic variants at six loci (GR... | GAD | 21874001 | Detail |
| 0.608 | Diabetes Mellitus, Non-Insulin-Dependent | Genome-wide trans-ancestry meta-analysis provides insight into the genetic archi... | GWASCAT | 24509480 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We genotyped 11,319 Japanese participants (8,318 with type 2 diabetes and 3,001 controls) for each o... | DisGeNET | Detail |
| In the combined analysis, we identified common genetic variants at six loci (GRB14, ST6GAL1, VPS26A,... | DisGeNET | Detail |
| [In the combined analysis, we identified common genetic variants at six loci (GRB14, ST6GAL1, VPS26A... | DisGeNET | Detail |
| Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 di... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs4812829 dbSNP
- Genome
- hg38
- Position
- chr20:44,360,627-44,360,627
- 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))
- rs4812829
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4607
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7722
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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