chr19:10279982:C>G Detail (hg38) (ICAM1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr19:10,390,658-10,390,658 View the variant detail on this assembly version. |
| hg38 | chr19:10,279,982-10,279,982 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000201.2:c.332-3499C>G | |
| Ensemble | ENST00000264832.8:c.332-3499C>G | |
| ENST00000423829.2:c.68-4147C>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.332 | |
| 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 | squamous cell carcinoma | ICAM-1 rs5491 and rs281432 may be applied as factors to predict the clinical sta... | BeFree | 24069166 | Detail |
| 0.129 | Cardiovascular Diseases | Of the 170 SNPs tested, multiplicative interactions between well-water arsenic a... | BeFree | 25575156 | Detail |
| 0.136 | Cardiovascular Diseases | Of the 170 SNPs tested, multiplicative interactions between well-water arsenic a... | BeFree | 25575156 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| ICAM-1 rs5491 and rs281432 may be applied as factors to predict the clinical stage in OSCC patients. | DisGeNET | Detail |
| Of the 170 SNPs tested, multiplicative interactions between well-water arsenic and two SNPs, rs28143... | DisGeNET | Detail |
| Of the 170 SNPs tested, multiplicative interactions between well-water arsenic and two SNPs, rs28143... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs281432 dbSNP
- Genome
- hg38
- Position
- chr19:10,279,982-10,279,982
- 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))
- rs281432
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3324
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5571
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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