chr3:39321218:T>C Detail (hg19) (CX3CR1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:39,321,218-39,321,218 |
| hg38 | chr3:39,279,727-39,279,727 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001171174.1:c.87+1882A>G | |
| NM_001337.3:c.-10+227A>G | ||
| NM_001171171.1:c.-10+1316A>G |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:1.000 | |
| 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 |
|---|---|---|---|---|---|
| 0.082 | obesity | Moreover, in exploratory analyses, we identified a number of possible interactio... | BeFree | 24287500 | Detail |
| 0.480 | age related macular degeneration | Moreover, in exploratory analyses, we identified a number of possible interactio... | BeFree | 24287500 | Detail |
| 0.001 | obesity | Moreover, in exploratory analyses, we identified a number of possible interactio... | BeFree | 24287500 | Detail |
| 0.311 | age related macular degeneration | Moreover, in exploratory analyses, we identified a number of possible interactio... | BeFree | 24287500 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Moreover, in exploratory analyses, we identified a number of possible interactions including between... | DisGeNET | Detail |
| Moreover, in exploratory analyses, we identified a number of possible interactions including between... | DisGeNET | Detail |
| Moreover, in exploratory analyses, we identified a number of possible interactions including between... | DisGeNET | Detail |
| Moreover, in exploratory analyses, we identified a number of possible interactions including between... | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs2669845 dbSNP
- Genome
- hg19
- Position
- chr3:39,321,218-39,321,218
- Variant Type
- snv
- Reference Allele
- T
- Alternative Allele
- C
- 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))
- rs2669845
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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