chr19:10394792:G>A Detail (hg19) (ICAM1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:10,394,792-10,394,792 |
| hg38 | chr19:10,284,116-10,284,116 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000201.2:c.721G>A | NP_000192.2:p.Gly241Arg |
| Ensemble | ENST00000264832.8:c.721G>A | ENST00000264832.8:p.Gly241Arg |
| ENST00000423829.2:c.68-13G>A |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:<0.001 |
| ToMMo:<0.001 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2019-10-18 | criteria provided, single submitter | ICAM1-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.014 | Inflammatory Bowel Diseases | The aim of this study was to investigate polymorphisms in the NOD2/CARD15 (R702W... | BeFree | 16741608 | Detail |
| 0.003 | gastroschisis | In logistic regression, controlling for maternal ethnicity, and using the homozy... | BeFree | 17051589 | Detail |
| 0.218 | myocardial infarction | ICAM-1 polymorphisms (G241R, K469E), in coronary artery disease and myocardial i... | BeFree | 18057581 | Detail |
| 0.081 | uveitis | G/R 241 polymorphism of intercellular adhesion molecule 1 (ICAM-1) is associated... | BeFree | 20445114 | Detail |
| 0.003 | gastroschisis | In logistic regression, controlling for maternal ethnicity, and using the homozy... | BeFree | 17051589 | Detail |
| 0.039 | colorectal cancer | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), ... | BeFree | 16937502 | Detail |
| 0.003 | acute promyelocytic leukemia | The association of ICAM-1 Exon 6 (E469K) but not of ICAM-1 Exon 4 (G241R) and PE... | BeFree | 17704297 | Detail |
| 0.003 | gastroschisis | In logistic regression, controlling for maternal ethnicity, and using the homozy... | BeFree | 17051589 | Detail |
| 0.007 | colorectal carcinoma | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), ... | BeFree | 16937502 | Detail |
| 0.037 | colorectal cancer | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), ... | BeFree | 16937502 | Detail |
| 0.397 | Inflammatory Bowel Diseases | The aim of this study was to investigate polymorphisms in the NOD2/CARD15 (R702W... | BeFree | 16741608 | Detail |
| 0.003 | gastroschisis | In logistic regression, controlling for maternal ethnicity, and using the homozy... | BeFree | 17051589 | Detail |
| 0.017 | coronary artery disease | ICAM-1 polymorphisms (G241R, K469E), in coronary artery disease and myocardial i... | BeFree | 18057581 | Detail |
| 0.011 | colorectal carcinoma | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), ... | BeFree | 16937502 | Detail |
| <0.001 | Graves Disease | Although there is not association between ICAM1 (G241R and K469E), VCAM1 (T-1591... | BeFree | 23242661 | Detail |
| 0.136 | Cardiovascular Diseases | The objective of this study was to examine the association of 2 nonsynonymous in... | BeFree | 17962597 | Detail |
| 0.006 | acute promyelocytic leukemia | The association of ICAM-1 Exon 6 (E469K) but not of ICAM-1 Exon 4 (G241R) and PE... | BeFree | 17704297 | Detail |
| 0.016 | Inflammatory Bowel Diseases | In the second approach, we typed four nonsynonymous polymorphisms in genes C3 (R... | BeFree | 16570073 | Detail |
| 0.026 | colorectal cancer | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), ... | BeFree | 16937502 | Detail |
| 0.013 | Coronary Arteriosclerosis | ICAM-1 polymorphisms (G241R, K469E), in coronary artery disease and myocardial i... | BeFree | 18057581 | Detail |
| 0.003 | Thyroid associated opthalmopathies | In order to study the association of G241R polymorphism of ICAM-1 gene with an e... | BeFree | 17873320 | Detail |
| 0.010 | Coronary heart disease | ICAM-1 polymorphisms (G241R, K469E), in coronary artery disease and myocardial i... | BeFree | 18057581 | Detail |
| 0.004 | Glioma | Similarly, the frequency of the A mutant allele of ICAM-1 R241G was statisticall... | BeFree | 24289603 | Detail |
| 0.011 | colorectal carcinoma | We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), ... | BeFree | 16937502 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000201.3(ICAM1):c.721G>A (p.Gly241Arg) AND ICAM1-related disorder | ClinVar | Detail |
| The aim of this study was to investigate polymorphisms in the NOD2/CARD15 (R702W, G908R, and 3020ins... | DisGeNET | Detail |
| In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as re... | DisGeNET | Detail |
| ICAM-1 polymorphisms (G241R, K469E), in coronary artery disease and myocardial infarction. | DisGeNET | Detail |
| G/R 241 polymorphism of intercellular adhesion molecule 1 (ICAM-1) is associated with Fuchs uveitis. | DisGeNET | Detail |
| In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as re... | DisGeNET | Detail |
| We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A... | DisGeNET | Detail |
| The association of ICAM-1 Exon 6 (E469K) but not of ICAM-1 Exon 4 (G241R) and PECAM-1 Exon 3 (L125V)... | DisGeNET | Detail |
| In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as re... | DisGeNET | Detail |
| We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A... | DisGeNET | Detail |
| We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A... | DisGeNET | Detail |
| The aim of this study was to investigate polymorphisms in the NOD2/CARD15 (R702W, G908R, and 3020ins... | DisGeNET | Detail |
| In logistic regression, controlling for maternal ethnicity, and using the homozygote wild-type as re... | DisGeNET | Detail |
| ICAM-1 polymorphisms (G241R, K469E), in coronary artery disease and myocardial infarction. | DisGeNET | Detail |
| We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A... | DisGeNET | Detail |
| Although there is not association between ICAM1 (G241R and K469E), VCAM1 (T-1591C and T-833C), and E... | DisGeNET | Detail |
| The objective of this study was to examine the association of 2 nonsynonymous intercellular adhesion... | DisGeNET | Detail |
| The association of ICAM-1 Exon 6 (E469K) but not of ICAM-1 Exon 4 (G241R) and PECAM-1 Exon 3 (L125V)... | DisGeNET | Detail |
| In the second approach, we typed four nonsynonymous polymorphisms in genes C3 (R102G and L314P) and ... | DisGeNET | Detail |
| We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A... | DisGeNET | Detail |
| ICAM-1 polymorphisms (G241R, K469E), in coronary artery disease and myocardial infarction. | DisGeNET | Detail |
| In order to study the association of G241R polymorphism of ICAM-1 gene with an earlier onset of Grav... | DisGeNET | Detail |
| ICAM-1 polymorphisms (G241R, K469E), in coronary artery disease and myocardial infarction. | DisGeNET | Detail |
| Similarly, the frequency of the A mutant allele of ICAM-1 R241G was statistically significant in pat... | DisGeNET | Detail |
| We studied the association of SNPs in the IL-6 (-174G>C), IL-8 (-251T>A), TNFalpha (-308G>A... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg19
- Position
- chr19:10,394,792-10,394,792
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- Filtering Status (HGVD)
- PASS
- Filtering Status (HGVD)
- LowQual
- # of samples (HGVD)
- 1200
- Mean of sample read depth (HGVD)
- 51.89
- Standard deviation of sample read depth (HGVD)
- 26.72
- Number of reference allele (HGVD)
- 2398
- Number of alternative allele (HGVD)
- 2
- Allele Frequency (HGVD)
- 8.333333333333334E-4
- Gene Symbol (HGVD)
- ICAM1
- 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))
- rs1799969
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0001
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 2
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8650
- East Asian Allele Counts (ExAC)
- 2
- East Asian Heterozygous Counts (ExAC)
- 2
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 2.3121387283236994E-4
- Chromosome Counts in All Race (ExAC)
- 121280
- Allele Counts in All Race (ExAC)
- 12136
- Heterozygous Counts in All Race (ExAC)
- 10326
- Homozygous Counts in All Race (ExAC)
- 905
- Allele Frequency in All Race (ExAC)
- 0.10006596306068602
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