chr20:43050761:T>G Detail (hg19) (HNF4A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr20:43,050,761-43,050,761 |
| hg38 | chr20:44,422,121-44,422,121 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000457.4:c.893-1897T>G | |
| NM_001258355.1:c.893-1897T>G | ||
| NM_178849.2:c.893-1897T>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.309 | |
| 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 |
|---|---|---|---|---|---|
| 0.031 | diabetes mellitus | Nine SNPs spanning the HNF4 alpha P2 promoter (rs4810424, rs1884613 and rs188461... | BeFree | 21633728 | Detail |
| 0.001 | Metabolic syndrome X | Nine SNPs spanning the HNF4 alpha P2 promoter (rs4810424, rs1884613 and rs188461... | BeFree | 21633728 | Detail |
| 0.027 | Diabetes | Nine SNPs spanning the HNF4 alpha P2 promoter (rs4810424, rs1884613 and rs188461... | BeFree | 21633728 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Nine SNPs spanning the HNF4 alpha P2 promoter (rs4810424, rs1884613 and rs1884614) and coding region... | DisGeNET | Detail |
| Nine SNPs spanning the HNF4 alpha P2 promoter (rs4810424, rs1884613 and rs1884614) and coding region... | DisGeNET | Detail |
| Nine SNPs spanning the HNF4 alpha P2 promoter (rs4810424, rs1884613 and rs1884614) and coding region... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1028583 dbSNP
- Genome
- hg19
- Position
- chr20:43,050,761-43,050,761
- Variant Type
- snv
- Reference Allele
- T
- 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))
- rs1028583
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3092
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5182
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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