chr4:106932839:G>A Detail (hg38) (DKK2)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr4:107,853,996-107,853,996 View the variant detail on this assembly version. |
hg38 | chr4:106,932,839-106,932,839 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_014421.2:c.223-6890C>T | |
Ensemble | ENST00000285311.8:c.223-6890C>T | |
ENST00000510463.1:c.85-6890C>T |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.390 | |
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
- rs447372 dbSNP
- Genome
- hg38
- Position
- chr4:106,932,839-106,932,839
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- 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))
- rs447372
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3903
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 6541
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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