chr17:34252769:A>G Detail (hg38) (CCL2, LOC126862536)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr17:32,579,788-32,579,788 View the variant detail on this assembly version. |
| hg38 | chr17:34,252,769-34,252,769 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.663 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
risk factor
|
2009-01-15 | no assertion criteria provided | Spina bifida, susceptibility to |
germline
|
Detail |
|
risk factor
|
2009-01-15 | no assertion criteria provided | Coronary artery disease, modifier of |
germline
|
Detail |
Pathogenic
|
2009-01-15 | no assertion criteria provided | Coronary artery disease, development of, in HIV |
germline
|
Detail |
|
risk factor
|
2009-01-15 | no assertion criteria provided | Mycobacterium tuberculosis, susceptibility to |
germline
|
Detail |
|
Benign
|
2023-07-10 | criteria provided, single submitter | CCL2-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.240 | MYCOBACTERIUM TUBERCULOSIS, SUSCEPTIBILITY TO (finding) | NA | CLINVAR | Detail | |
| 0.011 | Malignant neoplasm of breast | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
| 0.003 | Malignant neoplasm of breast | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
| 0.120 | Coronary artery disease, development of, in HIV | NA | CLINVAR | Detail | |
| 0.028 | Lupus Erythematosus, Systemic | Relationship between MCP-1 promoter -2518 A/G gene polymorphism (rs1024611) and ... | BeFree | 24968246 | Detail |
| 0.019 | Malignant neoplasm of breast | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
| 0.004 | breast carcinoma | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
| 0.009 | lupus nephritis | Relationship between MCP-1 promoter -2518 A/G gene polymorphism (rs1024611) and ... | BeFree | 24968246 | Detail |
| 0.008 | breast carcinoma | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
| 0.006 | breast carcinoma | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
| 0.120 | Coronary artery disease, modifier of | NA | CLINVAR | Detail | |
| 0.003 | breast carcinoma | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
| 0.006 | Malignant neoplasm of breast | To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250),... | BeFree | 24164868 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000017.11:g.34252769A>G AND Spina bifida, susceptibility to | ClinVar | Detail |
| NC_000017.11:g.34252769A>G AND Coronary artery disease, modifier of | ClinVar | Detail |
| NC_000017.11:g.34252769A>G AND Coronary artery disease, development of, in HIV | ClinVar | Detail |
| NC_000017.11:g.34252769A>G AND Mycobacterium tuberculosis, susceptibility to | ClinVar | Detail |
| NC_000017.11:g.34252769A>G AND CCL2-related disorder | ClinVar | Detail |
| NA | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Relationship between MCP-1 promoter -2518 A/G gene polymorphism (rs1024611) and systemic lupus eryth... | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
| Relationship between MCP-1 promoter -2518 A/G gene polymorphism (rs1024611) and systemic lupus eryth... | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
| To that effect, polymorphisms in genes coding for IL-4 (IL-4 C-590T; rs2243250), IFN-γ (IFN-G A + 87... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs1024611 dbSNP
- Genome
- hg38
- Position
- chr17:34,252,769-34,252,769
- Variant Type
- snv
- Reference Allele
- A
- 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))
- rs1024611
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.6628
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 11109
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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