chr20:42980519:C>T Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr20:42,980,519-42,980,519 |
| hg38 | chr20:44,351,879-44,351,879 View the variant detail on this assembly version. |
HGVS
[No Data.]
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 | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 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 | To summarize, our investigation did not confirm the effects of HNF4A variants (r... | BeFree | 20558840 | Detail |
| 0.295 | diabetes mellitus | We demonstrated genotype TT at rs1884614, BMI, and waist circumference were sign... | 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 |
| 0.080 | Diabetes | We demonstrated genotype TT at rs1884614, BMI, and waist circumference were sign... | BeFree | 17805472 | 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 |
|---|---|---|
| This study was aimed to assess the association of the two single nucleotide polymorphisms (SNPs) nea... | DisGeNET | Detail |
| To summarize, our investigation did not confirm the effects of HNF4A variants (rs1884614 and rs24256... | DisGeNET | Detail |
| We demonstrated genotype TT at rs1884614, BMI, and waist circumference were significantly associated... | DisGeNET | Detail |
| This study was aimed to assess the association of the two single nucleotide polymorphisms (SNPs) nea... | DisGeNET | Detail |
| We demonstrated genotype TT at rs1884614, BMI, and waist circumference were significantly associated... | 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 Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs1884614 dbSNP
- Genome
- hg19
- Position
- chr20:42,980,519-42,980,519
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs1884614
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4571
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7660
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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