chr3:189356261:T>C Detail (hg19) (TP63)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr3:189,356,261-189,356,261 |
hg38 | chr3:189,638,472-189,638,472 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001114978.1:c.62+6895T>C | |
NM_003722.4:c.62+6895T>C | ||
NM_001114979.1:c.62+6895T>C |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.517 | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:[No Data.] |
Prediction
ClinVar
Clinical Significance |
![]() |
Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
![]() |
2024-02-01 | criteria provided, single submitter | TP63-Related Spectrum Disorders |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.143 | Malignant neoplasm of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
<0.001 | Malignant neoplasm of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
<0.001 | Carcinoma of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
<0.001 | Malignant neoplasm of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
<0.001 | Malignant neoplasm of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
<0.001 | Carcinoma of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
<0.001 | Carcinoma of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
<0.001 | Carcinoma of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
0.155 | Malignant neoplasm of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
<0.001 | Carcinoma of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
0.015 | Carcinoma of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
0.121 | Malignant neoplasm of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
0.125 | Malignant neoplasm of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
<0.001 | Malignant neoplasm of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
0.009 | Carcinoma of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
0.003 | Carcinoma of lung | The combined analyses identified six well-replicated SNPs with independent effec... | BeFree | 21725308 | Detail |
0.125 | Lung Neoplasms | [A genome-wide association study identifies two new lung cancer susceptibility l... | GAD | 21725308 | Detail |
0.125 | Malignant neoplasm of lung | Genome-wide association analysis identifies new lung cancer susceptibility loci ... | GWASCAT | 23143601 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_003722.5(TP63):c.62+6895T>C AND TP63-Related Spectrum Disorders | ClinVar | Detail |
The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
The combined analyses identified six well-replicated SNPs with independent effects and significant l... | DisGeNET | Detail |
[A genome-wide association study identifies two new lung cancer susceptibility loci at 13q12.12 and ... | DisGeNET | Detail |
Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking wom... | DisGeNET | Detail |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs4488809 dbSNP
- Genome
- hg19
- Position
- chr3:189,356,261-189,356,261
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs4488809
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.5175
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 8674
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
Genome browser