chr16:28496323:C>G Detail (hg38) (APOBR)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr16:28,507,644-28,507,644 View the variant detail on this assembly version. |
| hg38 | chr16:28,496,323-28,496,323 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_018690.3:c.1282C>G | NP_061160.3:p.Pro428Ala |
| Ensemble | ENST00000564831.6:c.1282C>G | ENST00000564831.6:p.Pro428Ala |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.113 |
| ToMMo:0.129 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.091 |
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 |
|---|---|---|---|---|---|
| 0.003 | obesity | Carriers of obesity risk alleles of non-synonymous SNPs in SH2B1 (rs7498665, Thr... | BeFree | 23519644 | Detail |
| 0.231 | obesity | Carriers of obesity risk alleles of non-synonymous SNPs in SH2B1 (rs7498665, Thr... | BeFree | 23519644 | Detail |
| <0.001 | obesity | Analyses of non-synonymous obesity risk alleles in SH2B1 (rs7498665) and APOB48R... | BeFree | 23519644 | Detail |
| 0.278 | obesity | Analyses of non-synonymous obesity risk alleles in SH2B1 (rs7498665) and APOB48R... | BeFree | 23519644 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Carriers of obesity risk alleles of non-synonymous SNPs in SH2B1 (rs7498665, Thr484Ala) or APOB48R (... | DisGeNET | Detail |
| Carriers of obesity risk alleles of non-synonymous SNPs in SH2B1 (rs7498665, Thr484Ala) or APOB48R (... | DisGeNET | Detail |
| Analyses of non-synonymous obesity risk alleles in SH2B1 (rs7498665) and APOB48R (rs180743) in obese... | DisGeNET | Detail |
| Analyses of non-synonymous obesity risk alleles in SH2B1 (rs7498665) and APOB48R (rs180743) in obese... | 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
- chr16:28,496,323-28,496,323
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1083
- Mean of sample read depth (HGVD)
- 28.30
- Standard deviation of sample read depth (HGVD)
- 11.37
- Number of reference allele (HGVD)
- 1922
- Number of alternative allele (HGVD)
- 244
- Allele Frequency (HGVD)
- 0.11265004616805172
- Gene Symbol (HGVD)
- APOBR
- 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))
- rs180743
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1288
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2159
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8558
- East Asian Allele Counts (ExAC)
- 780
- East Asian Heterozygous Counts (ExAC)
- 684
- East Asian Homozygous Counts (ExAC)
- 48
- East Asian Allele Frequency (ExAC)
- 0.09114279037158214
- Chromosome Counts in All Race (ExAC)
- 113376
- Allele Counts in All Race (ExAC)
- 41920
- Heterozygous Counts in All Race (ExAC)
- 25248
- Homozygous Counts in All Race (ExAC)
- 8336
- Allele Frequency in All Race (ExAC)
- 0.36974315551792264
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