chr1:206940831:A>G Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr1:206,940,831-206,940,831 |
| hg38 | chr1:206,767,486-206,767,486 View the variant detail on this assembly version. |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.046 | |
| 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 | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Malaria, Cerebral | MAS with coma/cerebral malaria were strongly associated with EMR1-rs373533 in Ku... | BeFree | 23614351 | Detail |
| 0.001 | Malaria, Cerebral | MAS with coma/cerebral malaria were strongly associated with EMR1-rs373533 in Ku... | BeFree | 23614351 | Detail |
| <0.001 | anemia | Meanwhile, individuals with the hHbS rs334 TT, IL10 rs3024500 AA, and IL17RD rs6... | BeFree | 24312262 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| MAS with coma/cerebral malaria were strongly associated with EMR1-rs373533 in Kumasi (p = 0.00019) a... | DisGeNET | Detail |
| MAS with coma/cerebral malaria were strongly associated with EMR1-rs373533 in Kumasi (p = 0.00019) a... | DisGeNET | Detail |
| Meanwhile, individuals with the hHbS rs334 TT, IL10 rs3024500 AA, and IL17RD rs6780995 GA genotypes ... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs3024500 dbSNP
- Genome
- hg19
- Position
- chr1:206,940,831-206,940,831
- 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))
- rs3024500
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0462
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 774
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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