chr4:106922935:C>T Detail (hg38) (DKK2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:107,844,092-107,844,092 View the variant detail on this assembly version. |
| hg38 | chr4:106,922,935-106,922,935 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_014421.2:c.*1019G>A | |
| Ensemble | ENST00000285311.8:c.*1019G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.361 | |
| 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 |
|---|---|---|---|---|---|
| 0.003 | 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
- -
- dbSNP
- rs419558 dbSNP
- Genome
- hg38
- Position
- chr4:106,922,935-106,922,935
- 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))
- rs419558
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.361
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6051
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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