chr6:31815431:A>C Detail (hg38) (HSPA1A, LOC107063610)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr6:31,783,208-31,783,208 View the variant detail on this assembly version. |
| hg38 | chr6:31,815,431-31,815,431 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.428 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
association
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
association
|
2019-08-04 | no assertion criteria provided | chronic obstructive pulmonary disease |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | High altitude pulmonary edema | Haplotypes Hap4 (G-C-A, in order of rs1061581, rs1043618 and rs1008438) and Hap5... | BeFree | 19351530 | Detail |
| <0.001 | High altitude pulmonary edema | Moreover, polymorphism rs1008438 might cause the development of HAPE via a chang... | BeFree | 19351530 | Detail |
| <0.001 | High altitude pulmonary edema | We focused on 5 common polymorphisms within HSPA1A (rs1043618 and rs1008438), HS... | BeFree | 19351530 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000006.12:g.31815431A>C AND Chronic obstructive pulmonary disease | ClinVar | Detail |
| Haplotypes Hap4 (G-C-A, in order of rs1061581, rs1043618 and rs1008438) and Hap5 (G-G-A) had an 86% ... | DisGeNET | Detail |
| Moreover, polymorphism rs1008438 might cause the development of HAPE via a change in HSPA1A promoter... | DisGeNET | Detail |
| We focused on 5 common polymorphisms within HSPA1A (rs1043618 and rs1008438), HSPA1B (rs1061581 and ... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs1008438 dbSNP
- Genome
- hg38
- Position
- chr6:31,815,431-31,815,431
- 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))
- rs1008438
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.4279
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 7171
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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