chr22:30598552:C>G Detail (hg19)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr22:30,598,552-30,598,552 |
hg38 | chr22:30,202,563-30,202,563 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:0.156 | |
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 |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
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 |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
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 |
Overlapped Transcript
Gene | Transcript ID | Chromosome | Start | Stop | Links |
---|
- Gene
- -
- dbSNP
- rs17728461 dbSNP
- Genome
- hg19
- Position
- chr22:30,598,552-30,598,552
- Variant Type
- snv
- Reference Allele
- C
- 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))
- rs17728461
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1561
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2616
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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