chr1:100728649:C>T Detail (hg38) (VCAM1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:101,194,205-101,194,205 View the variant detail on this assembly version. |
hg38 | chr1:100,728,649-100,728,649 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001078.3:c.929-458C>T | |
NM_080682.2:c.929-2549C>T | ||
NM_001199834.1:c.743-458C>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
- hg38
- Position
- chr1:100,728,649-100,728,649
- 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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