chr17:82750725:C>G Detail (hg38) (FN3K)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:80,708,601-80,708,601 View the variant detail on this assembly version. |
| hg38 | chr17:82,750,725-82,750,725 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_022158.3:c.900C>G | NP_071441.1:p.Ser300= |
| Ensemble | ENST00000300784.8:c.900C>G | ENST00000300784.8:p.Ser300= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.590 |
| ToMMo:0.582 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.633 |
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 | Endothelial dysfunction | The aim of our study was to evaluate an association of FN3K (rs1056534, rs384840... | BeFree | 24908234 | Detail |
| <0.001 | Diabetic Nephropathy | We found combined effect of TKT SNP rs11130362 and FN3K SNP rs1056534 on DN prog... | BeFree | 23492569 | Detail |
| <0.001 | Diabetic Nephropathy | We found combined effect of TKT SNP rs11130362 and FN3K SNP rs1056534 on DN prog... | BeFree | 23492569 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The aim of our study was to evaluate an association of FN3K (rs1056534, rs3848403) and GLO1 rs4746 p... | DisGeNET | Detail |
| We found combined effect of TKT SNP rs11130362 and FN3K SNP rs1056534 on DN progression (p<0.01). | DisGeNET | Detail |
| We found combined effect of TKT SNP rs11130362 and FN3K SNP rs1056534 on DN progression (p<0.01). | 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
- hg38
- Position
- chr17:82,750,725-82,750,725
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Number of alternative allele (HGVD)
- 1317
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1117
- Mean of sample read depth (HGVD)
- 43.45
- Standard deviation of sample read depth (HGVD)
- 24.58
- Number of reference allele (HGVD)
- 916
- Allele Frequency (HGVD)
- 0.5897895208240036
- Gene Symbol (HGVD)
- FN3K
- 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))
- rs1056534
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5819
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 9746
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16750
- East Asian Chromosome Counts (ExAC)
- 8606
- East Asian Allele Counts (ExAC)
- 5445
- East Asian Heterozygous Counts (ExAC)
- 1971
- East Asian Homozygous Counts (ExAC)
- 1737
- East Asian Allele Frequency (ExAC)
- 0.6326981175923774
- Chromosome Counts in All Race (ExAC)
- 120892
- Allele Counts in All Race (ExAC)
- 75271
- Heterozygous Counts in All Race (ExAC)
- 28305
- Homozygous Counts in All Race (ExAC)
- 23483
- Allele Frequency in All Race (ExAC)
- 0.622630116136717
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