chr3:53231750:C>T Detail (hg38) (TKT)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:53,265,766-53,265,766 View the variant detail on this assembly version. |
| hg38 | chr3:53,231,750-53,231,750 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001258028.1:c.773-200G>A | |
| NM_001135055.2:c.749-200G>A | ||
| NM_001064.3:c.749-200G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.141 | |
| 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 |
|---|---|---|---|---|---|
| <0.001 | 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 |
|---|---|---|
| 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
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs11130362 dbSNP
- Genome
- hg38
- Position
- chr3:53,231,750-53,231,750
- 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))
- rs11130362
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1411
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2364
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser