chr8:42231786:G>A Detail (hg19) (DKK4)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr8:42,231,786-42,231,786 |
| hg38 | chr8:42,374,268-42,374,268 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_014420.2:c.507C>T | NP_055235.1:p.Val169= |
| Ensemble | ENST00000220812.3:c.507C>T | ENST00000220812.3:p.Val169= |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.161 |
| ToMMo:0.176 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.123 |
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 | renal cell carcinoma | including Dickkopf 2 (DKK2) (reference SNP identification number 17037102 [rs170... | BeFree | 19562778 | Detail |
| 0.003 | renal cell carcinoma | including Dickkopf 2 (DKK2) (reference SNP identification number 17037102 [rs170... | BeFree | 19562778 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| including Dickkopf 2 (DKK2) (reference SNP identification number 17037102 [rs17037102], rs419558, an... | DisGeNET | Detail |
| including Dickkopf 2 (DKK2) (reference SNP identification number 17037102 [rs17037102], rs419558, an... | 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
- chr8:42,231,786-42,231,786
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1128
- Mean of sample read depth (HGVD)
- 35.64
- Standard deviation of sample read depth (HGVD)
- 22.43
- Number of reference allele (HGVD)
- 1893
- Number of alternative allele (HGVD)
- 363
- Allele Frequency (HGVD)
- 0.16090425531914893
- Gene Symbol (HGVD)
- DKK4
- 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))
- rs2073664
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1764
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2957
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8652
- East Asian Allele Counts (ExAC)
- 1060
- East Asian Heterozygous Counts (ExAC)
- 922
- East Asian Homozygous Counts (ExAC)
- 69
- East Asian Allele Frequency (ExAC)
- 0.12251502542764679
- Chromosome Counts in All Race (ExAC)
- 121400
- Allele Counts in All Race (ExAC)
- 17881
- Heterozygous Counts in All Race (ExAC)
- 12341
- Homozygous Counts in All Race (ExAC)
- 2770
- Allele Frequency in All Race (ExAC)
- 0.14728995057660627
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