chr11:11986927:A>G Detail (hg19) (DKK3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:11,986,927-11,986,927 |
| hg38 | chr11:11,965,380-11,965,380 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_013253.4:c.830+429T>C | |
| NM_001330220.1:c.830+429T>C | ||
| NM_001018057.1:c.830+429T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.344 | |
| 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
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs11022095 dbSNP
- Genome
- hg19
- Position
- chr11:11,986,927-11,986,927
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
- 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))
- rs11022095
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3437
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5759
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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