chr5:132672952:T>G Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:132,008,644-132,008,644 View the variant detail on this assembly version. |
| hg38 | chr5:132,672,952-132,672,952 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.076 | |
| 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 |
|---|---|---|---|---|---|
| 0.005 | Glioma | The IL4 (rs2243248, -1098T>G) and IL6 (rs1800795, -174G>C) polymorphisms w... | BeFree | 17916900 | Detail |
| 0.015 | Glioma | The IL4 (rs2243248, -1098T>G) and IL6 (rs1800795, -174G>C) polymorphisms w... | BeFree | 17916900 | Detail |
| 0.005 | glioblastoma | The genotype AG of rs1801275 in the IL-4R gene showed an increase risk in over-d... | BeFree | 23663500 | Detail |
| 0.009 | Fatigue | Evening fatigue was associated with caring for children at home and variations i... | BeFree | 24872120 | Detail |
| <0.001 | Fatigue | Evening fatigue was associated with caring for children at home and variations i... | BeFree | 24872120 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| The IL4 (rs2243248, -1098T>G) and IL6 (rs1800795, -174G>C) polymorphisms were significantly as... | DisGeNET | Detail |
| The IL4 (rs2243248, -1098T>G) and IL6 (rs1800795, -174G>C) polymorphisms were significantly as... | DisGeNET | Detail |
| The genotype AG of rs1801275 in the IL-4R gene showed an increase risk in over-dominant model (OR = ... | DisGeNET | Detail |
| Evening fatigue was associated with caring for children at home and variations in interleukin 4 (IL4... | DisGeNET | Detail |
| Evening fatigue was associated with caring for children at home and variations in interleukin 4 (IL4... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs2243248 dbSNP
- Genome
- hg38
- Position
- chr5:132,672,952-132,672,952
- Variant Type
- snv
- Reference Allele
- T
- 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))
- rs2243248
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0758
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1271
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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