chr20:44410400:G>A Detail (hg38) (HNF4A)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr20:43,039,040-43,039,040 View the variant detail on this assembly version. |
hg38 | chr20:44,410,400-44,410,400 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000457.4:c.385+2925G>A | |
NM_001258355.1:c.385+2925G>A | ||
NM_178849.2:c.385+2925G>A |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.005 | |
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 |
---|---|---|---|---|---|
0.374 | Diabetes Mellitus, Non-Insulin-Dependent | These results indicate that the associations of HNF4A rs1885088 with glucose tol... | BeFree | 19406499 | 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 |
---|---|---|
These results indicate that the associations of HNF4A rs1885088 with glucose tolerance and rs745975 ... | 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
- rs1885088 dbSNP
- Genome
- hg38
- Position
- chr20:44,410,400-44,410,400
- 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))
- rs1885088
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0053
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 89
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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