chr1:101194205:C>T Detail (hg19) (VCAM1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:101,194,205-101,194,205 |
| hg38 | chr1:100,728,649-100,728,649 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001078.3:c.929-458C>T | |
| NM_001199834.1:c.743-458C>T | ||
| NM_080682.2:c.929-2549C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.196 | |
| 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 |
|---|---|---|---|---|---|
| 0.129 | 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 |
|---|---|---|
| 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
- rs3176867 dbSNP
- Genome
- hg19
- Position
- chr1:101,194,205-101,194,205
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- 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))
- rs3176867
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1961
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3286
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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