chr5:179793637:A>C Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr5:179,220,638-179,220,638 View the variant detail on this assembly version. |
| hg38 | chr5:179,793,637-179,793,637 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.187 | |
| 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 | Ischemic stroke | In the non-hypertensive group, CCL11 rs3744508, LTC4S rs730012, FCER1B rs569108,... | BeFree | 22769019 | Detail |
| <0.001 | Ischemic Cerebrovascular Accident | In the non-hypertensive group, CCL11 rs3744508, LTC4S rs730012, FCER1B rs569108,... | BeFree | 22769019 | Detail |
| <0.001 | Ischemic Cerebrovascular Accident | Under the recessive genetic model, ALOX5 rs2029253 variant reduced IS risk (adju... | BeFree | 23079278 | Detail |
| <0.001 | Ischemic stroke | Under the recessive genetic model, ALOX5 rs2029253 variant reduced IS risk (adju... | BeFree | 23079278 | Detail |
| 0.069 | asthma | We analyzed the effects of LTC4S -444 A/C, ALOX5 -176/-147, and ALOX5AP -169/-14... | BeFree | 20128419 | Detail |
| 0.003 | urticaria | The A-444C polymorphism in the leukotriene C4 synthase gene is associated with a... | BeFree | 19862937 | Detail |
| 0.003 | Allergic rhinitis (disorder) | Leukotriene C4 synthase A-444C gene polymorphism in patients with allergic rhini... | BeFree | 16730545 | Detail |
| 0.069 | asthma | The -444A/C polymorphism in the LTC4S gene and the risk of asthma: a meta-analys... | BeFree | 22884858 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| In the non-hypertensive group, CCL11 rs3744508, LTC4S rs730012, FCER1B rs569108, TGFB1 rs1800469, LT... | DisGeNET | Detail |
| In the non-hypertensive group, CCL11 rs3744508, LTC4S rs730012, FCER1B rs569108, TGFB1 rs1800469, LT... | DisGeNET | Detail |
| Under the recessive genetic model, ALOX5 rs2029253 variant reduced IS risk (adjusted OR, 0.78; 95% C... | DisGeNET | Detail |
| Under the recessive genetic model, ALOX5 rs2029253 variant reduced IS risk (adjusted OR, 0.78; 95% C... | DisGeNET | Detail |
| We analyzed the effects of LTC4S -444 A/C, ALOX5 -176/-147, and ALOX5AP -169/-146 on asthma suscepti... | DisGeNET | Detail |
| The A-444C polymorphism in the leukotriene C4 synthase gene is associated with aspirin-induced urtic... | DisGeNET | Detail |
| Leukotriene C4 synthase A-444C gene polymorphism in patients with allergic rhinitis. | DisGeNET | Detail |
| The -444A/C polymorphism in the LTC4S gene and the risk of asthma: a meta-analysis. | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs730012 dbSNP
- Genome
- hg38
- Position
- chr5:179,793,637-179,793,637
- Variant Type
- snv
- Reference Allele
- A
- 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))
- rs730012
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.187
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 3133
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
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