chr19:49206417:A>G Detail (hg19) (FUT2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:49,206,417-49,206,417 |
| hg38 | chr19:48,703,160-48,703,160 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000511.5:c.204A>G | NP_000502.4:p.Ala68= |
| NM_001097638.2:c.204A>G | NP_001091107.1:p.Ala68= | |
| Ensemble | ENST00000425340.3:c.204A>G | ENST00000425340.3:p.Ala68= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.002 |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.006 |
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 |
|---|---|---|---|---|---|
| <0.001 | hemochromatosis | As part of the Healthy Ageing across the Life Course (HALCyon) program, men and ... | BeFree | 23468552 | Detail |
| <0.001 | hemochromatosis | As part of the Healthy Ageing across the Life Course (HALCyon) program, men and ... | BeFree | 23468552 | Detail |
| <0.001 | hemochromatosis | As part of the Healthy Ageing across the Life Course (HALCyon) program, men and ... | BeFree | 23468552 | Detail |
| <0.001 | hemochromatosis | As part of the Healthy Ageing across the Life Course (HALCyon) program, men and ... | BeFree | 23468552 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| As part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 4... | DisGeNET | Detail |
| As part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 4... | DisGeNET | Detail |
| As part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 4... | DisGeNET | Detail |
| As part of the Healthy Ageing across the Life Course (HALCyon) program, men and women aged between 4... | 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
- -
- Genome
- hg19
- Position
- chr19:49,206,417-49,206,417
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1203
- Mean of sample read depth (HGVD)
- 171.64
- Standard deviation of sample read depth (HGVD)
- 84.15
- Number of reference allele (HGVD)
- 2402
- Number of alternative allele (HGVD)
- 4
- Allele Frequency (HGVD)
- 0.0016625103906899418
- Gene Symbol (HGVD)
- FUT2
- East Asian Chromosome Counts (ExAC)
- 8610
- East Asian Allele Counts (ExAC)
- 55
- East Asian Heterozygous Counts (ExAC)
- 55
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.006387921022067364
- Chromosome Counts in All Race (ExAC)
- 120694
- Allele Counts in All Race (ExAC)
- 47057
- Heterozygous Counts in All Race (ExAC)
- 26057
- Homozygous Counts in All Race (ExAC)
- 10500
- Allele Frequency in All Race (ExAC)
- 0.38988682121729334
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