chr12:6948468:T>C Detail (hg19) (P3H3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:6,948,468-6,948,468 |
| hg38 | chr12:6,839,304-6,839,304 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_014262.4:c.2053T>C | NP_055077.2:p.Ter685Glnext*? |
| Ensemble | ENST00000290510.10:c.2053T>C | ENST00000290510.10:p.Ter685Glnext*? |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.349 |
| ToMMo:0.360 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.424 |
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 | vitelliform macular dystrophy | The 3-locus MDR model comprising FTO rs8050136C/A and GNB3 rs1129649T/C and rs54... | BeFree | 23691120 | Detail |
| <0.001 | vitelliform macular dystrophy | The 3-locus MDR model comprising FTO rs8050136C/A and GNB3 rs1129649T/C and rs54... | BeFree | 23691120 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The 3-locus MDR model comprising FTO rs8050136C/A and GNB3 rs1129649T/C and rs5443C/T emerged as the... | DisGeNET | Detail |
| The 3-locus MDR model comprising FTO rs8050136C/A and GNB3 rs1129649T/C and rs5443C/T emerged as the... | 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
- chr12:6,948,468-6,948,468
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1195
- Mean of sample read depth (HGVD)
- 37.15
- Standard deviation of sample read depth (HGVD)
- 19.20
- Number of reference allele (HGVD)
- 1555
- Number of alternative allele (HGVD)
- 835
- Allele Frequency (HGVD)
- 0.3493723849372385
- Gene Symbol (HGVD)
- LEPREL2
- 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))
- rs1129649
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3596
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6027
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 806
- East Asian Allele Counts (ExAC)
- 342
- East Asian Heterozygous Counts (ExAC)
- 194
- East Asian Homozygous Counts (ExAC)
- 74
- East Asian Allele Frequency (ExAC)
- 0.42431761786600497
- Chromosome Counts in All Race (ExAC)
- 23746
- Allele Counts in All Race (ExAC)
- 9363
- Heterozygous Counts in All Race (ExAC)
- 5777
- Homozygous Counts in All Race (ExAC)
- 1793
- Allele Frequency in All Race (ExAC)
- 0.39429798702939445
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