chr9:6365683:A>C Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr9:6,365,683-6,365,683 View the variant detail on this assembly version. |
| hg38 | chr9:6,365,683-6,365,683 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.336 | |
| 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 |
|---|---|---|---|---|---|
| <0.001 | colorectal cancer | Furthermore, NIRF is immediately adjacent to the single nucleotide polymorphism ... | BeFree | 21952639 | Detail |
| <0.001 | colorectal carcinoma | Furthermore, NIRF is immediately adjacent to the single nucleotide polymorphism ... | BeFree | 21952639 | Detail |
| 0.014 | Malignant tumor of colon | A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PM... | BeFree | 23434150 | Detail |
| 0.003 | colon carcinoma | A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PM... | BeFree | 23434150 | Detail |
| 0.006 | Malignant tumor of colon | A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PM... | BeFree | 23434150 | Detail |
| 0.004 | Malignant tumor of colon | A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PM... | BeFree | 23434150 | Detail |
| 0.005 | colon carcinoma | A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PM... | BeFree | 23434150 | Detail |
| 0.011 | colon carcinoma | A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PM... | BeFree | 23434150 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Furthermore, NIRF is immediately adjacent to the single nucleotide polymorphism rs719725, which is r... | DisGeNET | Detail |
| Furthermore, NIRF is immediately adjacent to the single nucleotide polymorphism rs719725, which is r... | DisGeNET | Detail |
| A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 familie... | DisGeNET | Detail |
| A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 familie... | DisGeNET | Detail |
| A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 familie... | DisGeNET | Detail |
| A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 familie... | DisGeNET | Detail |
| A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 familie... | DisGeNET | Detail |
| A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 familie... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs719725 dbSNP
- Genome
- hg38
- Position
- chr9:6,365,683-6,365,683
- Variant Type
- snv
- Reference Allele
- A
- 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))
- rs719725
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3362
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5635
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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