chr18:46453463:T>C Detail (hg19) (SMAD7)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr18:46,453,463-46,453,463 |
| hg38 | chr18:48,927,093-48,927,093 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001190821.1:c.743-5183A>G | |
| NM_005904.3:c.743-5183A>G | ||
| NM_001190822.1:c.98-5183A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.788 | |
| 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 |
|---|---|---|---|---|---|
| <0.001 | Drug usage | The odds ratios between SMAD7 and colon cancer among individuals reporting recen... | BeFree | 20124488 | Detail |
| 0.162 | colorectal cancer | Two previous genome-wide association studies identified three single nucleotide ... | BeFree | 21221812 | Detail |
| 0.009 | colorectal carcinoma | Two previous genome-wide association studies identified three single nucleotide ... | BeFree | 21221812 | Detail |
| 0.162 | colorectal cancer | Two recent genome-wide association studies (GWAS) identified three common varian... | BeFree | 19357349 | Detail |
| 0.009 | colorectal carcinoma | Two recent genome-wide association studies (GWAS) identified three common varian... | BeFree | 19357349 | Detail |
| 0.162 | colorectal cancer | Moreover, we found cumulative effects of three genetic factors (rs7758229, rs698... | BeFree | 21242260 | Detail |
| 0.162 | colorectal cancer | A genome-wide association study shows that common alleles of SMAD7 influence col... | GWASCAT | 17934461 | Detail |
| 0.162 | colorectal cancer | SMAD7 variant rs4939827 is associated with colorectal cancer risk in Croatian po... | BeFree | 24066093 | Detail |
| 0.009 | colorectal carcinoma | SMAD7 variant rs4939827 is associated with colorectal cancer risk in Croatian po... | BeFree | 24066093 | Detail |
| 0.132 | Colorectal Neoplasms | [Genome-wide association scan identifies a colorectal cancer susceptibility locu... | GAD | 18372901 | Detail |
| 0.162 | colorectal cancer | Meta-analysis of new genome-wide association studies of colorectal cancer risk. | GWASCAT | 21761138 | Detail |
| 0.132 | Colorectal Neoplasms | [Meta-analysis of new genome-wide association studies of colorectal cancer risk.... | GAD | 21761138 | Detail |
| 0.162 | colorectal cancer | Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-... | GWASCAT | 23266556 | Detail |
| 0.162 | colorectal cancer | [A genome-wide association study shows that common alleles of SMAD7 influence co... | GAD | 17934461 | Detail |
| 0.132 | Colorectal Neoplasms | [A genome-wide association study shows that common alleles of SMAD7 influence co... | GAD | 17934461 | Detail |
| 0.132 | Colorectal Neoplasms | [A genome-wide association study identifies colorectal cancer susceptibility loc... | GAD | 18372905 | Detail |
| 0.009 | colorectal carcinoma | Moreover, we found cumulative effects of three genetic factors (rs7758229, rs698... | BeFree | 21242260 | Detail |
| 0.162 | colorectal cancer | Genome-wide association scan identifies a colorectal cancer susceptibility locus... | GWASCAT | 18372901 | Detail |
| 0.009 | colorectal carcinoma | Among the European CRC-susceptibility SNPs, rs4939827 in SMAD7 was associated wi... | BeFree | 23875689 | Detail |
| 0.162 | colorectal cancer | Among the European CRC-susceptibility SNPs, rs4939827 in SMAD7 was associated wi... | BeFree | 23875689 | 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 odds ratios between SMAD7 and colon cancer among individuals reporting recent aspirin/nonsteroid... | DisGeNET | Detail |
| Two previous genome-wide association studies identified three single nucleotide polymorphisms (SNPs)... | DisGeNET | Detail |
| Two previous genome-wide association studies identified three single nucleotide polymorphisms (SNPs)... | DisGeNET | Detail |
| Two recent genome-wide association studies (GWAS) identified three common variants in SMAD7 (rs44641... | DisGeNET | Detail |
| Two recent genome-wide association studies (GWAS) identified three common variants in SMAD7 (rs44641... | DisGeNET | Detail |
| Moreover, we found cumulative effects of three genetic factors (rs7758229, rs6983267, and rs4939827 ... | DisGeNET | Detail |
| A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk. | DisGeNET | Detail |
| SMAD7 variant rs4939827 is associated with colorectal cancer risk in Croatian population. | DisGeNET | Detail |
| SMAD7 variant rs4939827 is associated with colorectal cancer risk in Croatian population. | DisGeNET | Detail |
| [Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and repli... | 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 |
| Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis. | DisGeNET | Detail |
| [A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk... | DisGeNET | Detail |
| [A genome-wide association study shows that common alleles of SMAD7 influence colorectal cancer risk... | DisGeNET | Detail |
| [A genome-wide association study identifies colorectal cancer susceptibility loci on chromosomes 10p... | DisGeNET | Detail |
| Moreover, we found cumulative effects of three genetic factors (rs7758229, rs6983267, and rs4939827 ... | DisGeNET | Detail |
| Genome-wide association scan identifies a colorectal cancer susceptibility locus on 11q23 and replic... | DisGeNET | Detail |
| Among the European CRC-susceptibility SNPs, rs4939827 in SMAD7 was associated with a significant dec... | DisGeNET | Detail |
| Among the European CRC-susceptibility SNPs, rs4939827 in SMAD7 was associated with a significant dec... | 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
- rs4939827 dbSNP
- Genome
- hg19
- Position
- chr18:46,453,463-46,453,463
- 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))
- rs4939827
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.7877
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 13202
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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