chr20:44357077:G>A Detail (hg38) (HNF4A)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr20:42,985,717-42,985,717 View the variant detail on this assembly version. |
| hg38 | chr20:44,357,077-44,357,077 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001030003.2:c.49+1224G>A | |
| NM_175914.4:c.49+1224G>A | ||
| NM_001030004.2:c.49+1224G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.457 | |
| 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 | HNF4A promoter P2 polymorphisms rs1884613 and rs2144908, which are in high linka... | BeFree | 21814221 | Detail |
| 0.608 | Diabetes Mellitus, Non-Insulin-Dependent | Combined analysis of both phases demonstrated association between HNF4A P2 SNPs ... | BeFree | 18728231 | Detail |
| 0.374 | Diabetes Mellitus, Non-Insulin-Dependent | This study was aimed to assess the association of the two single nucleotide poly... | BeFree | 17805472 | Detail |
| 0.608 | Diabetes Mellitus, Non-Insulin-Dependent | This study was aimed to assess the association of the two single nucleotide poly... | BeFree | 17805472 | Detail |
| 0.021 | arteriosclerosis | The interaction result for S(I) was replicated by the Insulin Resistance Atheros... | BeFree | 18162503 | Detail |
| 0.003 | atherosclerosis | The interaction result for S(I) was replicated by the Insulin Resistance Atheros... | BeFree | 18162503 | Detail |
| <0.001 | arteriosclerosis | The interaction result for S(I) was replicated by the Insulin Resistance Atheros... | BeFree | 18162503 | Detail |
| 0.094 | arteriosclerosis | The interaction result for S(I) was replicated by the Insulin Resistance Atheros... | BeFree | 18162503 | Detail |
| 0.153 | atherosclerosis | The interaction result for S(I) was replicated by the Insulin Resistance Atheros... | BeFree | 18162503 | Detail |
| 0.034 | atherosclerosis | The interaction result for S(I) was replicated by the Insulin Resistance Atheros... | BeFree | 18162503 | Detail |
| 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 |
|---|---|---|
| HNF4A promoter P2 polymorphisms rs1884613 and rs2144908, which are in high linkage disequilibrium, s... | DisGeNET | Detail |
| Combined analysis of both phases demonstrated association between HNF4A P2 SNPs (rs1884613 and rs214... | DisGeNET | Detail |
| This study was aimed to assess the association of the two single nucleotide polymorphisms (SNPs) nea... | DisGeNET | Detail |
| This study was aimed to assess the association of the two single nucleotide polymorphisms (SNPs) nea... | DisGeNET | Detail |
| The interaction result for S(I) was replicated by the Insulin Resistance Atherosclerosis Family Stud... | DisGeNET | Detail |
| The interaction result for S(I) was replicated by the Insulin Resistance Atherosclerosis Family Stud... | DisGeNET | Detail |
| The interaction result for S(I) was replicated by the Insulin Resistance Atherosclerosis Family Stud... | DisGeNET | Detail |
| The interaction result for S(I) was replicated by the Insulin Resistance Atherosclerosis Family Stud... | DisGeNET | Detail |
| The interaction result for S(I) was replicated by the Insulin Resistance Atherosclerosis Family Stud... | DisGeNET | Detail |
| The interaction result for S(I) was replicated by the Insulin Resistance Atherosclerosis Family Stud... | 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 |
| 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
- rs2144908 dbSNP
- Genome
- hg38
- Position
- chr20:44,357,077-44,357,077
- 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))
- rs2144908
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4573
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7664
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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