chr6:160032946:A>G Detail (hg38) (IGF2R)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:160,453,978-160,453,978 View the variant detail on this assembly version. |
| hg38 | chr6:160,032,946-160,032,946 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000876.3:c.1050A>G | NP_000867.2:p.Ser350= |
| Ensemble | ENST00000356956.6:c.1050A>G | ENST00000356956.6:p.Ser350= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.717 |
| ToMMo:0.732 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.743 |
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 | Metabolic syndrome X | For the SNP genotypes of rs362551 (SNAP25), rs3818569 (RXRG), rs1479355, rs15700... | BeFree | 25867398 | Detail |
| 0.003 | Metabolic syndrome X | For the SNP genotypes of rs362551 (SNAP25), rs3818569 (RXRG), rs1479355, rs15700... | BeFree | 25867398 | Detail |
| 0.003 | Metabolic syndrome X | For the SNP genotypes of rs362551 (SNAP25), rs3818569 (RXRG), rs1479355, rs15700... | BeFree | 25867398 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| For the SNP genotypes of rs362551 (SNAP25), rs3818569 (RXRG), rs1479355, rs1570070 (IGF2R), and rs91... | DisGeNET | Detail |
| For the SNP genotypes of rs362551 (SNAP25), rs3818569 (RXRG), rs1479355, rs1570070 (IGF2R), and rs91... | DisGeNET | Detail |
| For the SNP genotypes of rs362551 (SNAP25), rs3818569 (RXRG), rs1479355, rs1570070 (IGF2R), and rs91... | 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
- chr6:160,032,946-160,032,946
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1208
- Mean of sample read depth (HGVD)
- 42.55
- Standard deviation of sample read depth (HGVD)
- 24.81
- Number of reference allele (HGVD)
- 683
- Number of alternative allele (HGVD)
- 1732
- Allele Frequency (HGVD)
- 0.7171842650103519
- Gene Symbol (HGVD)
- IGF2R
- 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))
- rs1570070
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7317
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 12264
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8646
- East Asian Allele Counts (ExAC)
- 6428
- East Asian Heterozygous Counts (ExAC)
- 1638
- East Asian Homozygous Counts (ExAC)
- 2395
- East Asian Allele Frequency (ExAC)
- 0.7434651862132778
- Chromosome Counts in All Race (ExAC)
- 120174
- Allele Counts in All Race (ExAC)
- 45097
- Heterozygous Counts in All Race (ExAC)
- 26307
- Homozygous Counts in All Race (ExAC)
- 9395
- Allele Frequency in All Race (ExAC)
- 0.375264200242981
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