chr11:111300984:C>A Detail (hg38) (POU2AF3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:111,171,709-111,171,709 View the variant detail on this assembly version. |
| hg38 | chr11:111,300,984-111,300,984 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001136105.2:c.-190+363C>A | |
| NM_001271458.1:c.-190+363C>A | ||
| NM_001271458.1:c.102+363C>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.675 | |
| 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 |
|---|---|---|---|---|---|
| 0.121 | colorectal cancer | The CRC-associated eQTL rs3802842 was associated with the expression of C11orf93... | BeFree | 25766683 | Detail |
| 0.005 | Colorectal Neoplasms | [Genome-wide association scan identifies a colorectal cancer susceptibility locu... | GAD | 18372901 | Detail |
| 0.001 | colorectal carcinoma | The CRC-associated eQTL rs3802842 was associated with the expression of C11orf93... | BeFree | 25766683 | Detail |
| 0.125 | colorectal cancer | Genome-wide association scan identifies a colorectal cancer susceptibility locus... | GWASCAT | 18372901 | Detail |
| 0.125 | colorectal cancer | Large-scale genetic study in East Asians identifies six new loci associated with... | GWASCAT | 24836286 | Detail |
| 0.125 | colorectal cancer | Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-... | GWASCAT | 23266556 | Detail |
| 0.121 | colorectal cancer | Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-... | GWASCAT | 23266556 | Detail |
| 0.121 | colorectal cancer | Meta-analysis of new genome-wide association studies of colorectal cancer risk. | GWASCAT | 21761138 | Detail |
| 0.005 | Colorectal Neoplasms | [Meta-analysis of new genome-wide association studies of colorectal cancer risk.... | GAD | 21761138 | Detail |
| 0.121 | colorectal cancer | Large-scale genetic study in East Asians identifies six new loci associated with... | GWASCAT | 24836286 | Detail |
| 0.121 | colorectal cancer | Genome-wide association scan identifies a colorectal cancer susceptibility locus... | GWASCAT | 18372901 | Detail |
| 0.125 | colorectal cancer | Meta-analysis of new genome-wide association studies of colorectal cancer risk. | GWASCAT | 21761138 | 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 |
| 0.009 | colorectal carcinoma | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | Detail |
| 0.013 | colorectal cancer | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | 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 |
| 0.008 | colorectal carcinoma | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | Detail |
| 0.010 | colorectal cancer | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | Detail |
| 0.004 | colorectal carcinoma | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | Detail |
| 0.126 | colorectal cancer | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | 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 |
| 0.162 | colorectal cancer | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | Detail |
| 0.004 | colorectal cancer | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | Detail |
| 0.003 | colorectal carcinoma | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | Detail |
| <0.001 | colorectal carcinoma | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | 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 |
| 0.171 | colorectal cancer | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | Detail |
| 0.002 | colorectal carcinoma | We used meta-analysis of an efficient empirical-Bayes estimator to detect potent... | BeFree | 22367214 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The CRC-associated eQTL rs3802842 was associated with the expression of C11orf93 (COLCA2). | DisGeNET | Detail |
| [Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and repli... | DisGeNET | Detail |
| The CRC-associated eQTL rs3802842 was associated with the expression of C11orf93 (COLCA2). | DisGeNET | Detail |
| Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replic... | DisGeNET | Detail |
| Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer r... | DisGeNET | Detail |
| Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. | DisGeNET | Detail |
| Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. | DisGeNET | Detail |
| Meta-analysis of new genome-wide association studies of colorectal cancer risk. | DisGeNET | Detail |
| [Meta-analysis of new genome-wide association studies of colorectal cancer risk.] | DisGeNET | Detail |
| Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer r... | DisGeNET | Detail |
| Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replic... | DisGeNET | Detail |
| Meta-analysis of new genome-wide association studies of colorectal cancer risk. | DisGeNET | Detail |
| A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 familie... | DisGeNET | Detail |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | DisGeNET | Detail |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | 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 |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | DisGeNET | Detail |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | DisGeNET | Detail |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | DisGeNET | Detail |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | DisGeNET | Detail |
| A total of 927 MMR gene mutation carriers (360 MLH1, 442 MSH2, 85 MSH6 and 40 PMS2) from 315 familie... | DisGeNET | Detail |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | DisGeNET | Detail |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | DisGeNET | Detail |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | DisGeNET | Detail |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | 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 |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | DisGeNET | Detail |
| We used meta-analysis of an efficient empirical-Bayes estimator to detect potential multiplicative i... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs3802842 dbSNP
- Genome
- hg38
- Position
- chr11:111,300,984-111,300,984
- Variant Type
- snv
- Reference Allele
- C
- 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))
- rs3802842
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6753
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 11316
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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