chr20:6786464:A>G Detail (hg38) (BMP2)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr20:6,767,111-6,767,111 View the variant detail on this assembly version. |
| hg38 | chr20:6,786,464-6,786,464 |
HGVS
[No Data.]
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:0.102 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance |
confers sensitivity
|
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
confers sensitivity
|
2012-05-01 | criteria provided, single submitter | lung cancer |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.003 | iron deficiency anemia | To evaluate the association of genetic variants in genes involved in iron delive... | BeFree | 22323359 | Detail |
| 0.003 | Hereditary hemochromatosis | Our results make it likely the role of rs10421768, rs235756, rs2230267 and rs143... | BeFree | 25976471 | Detail |
| <0.001 | Hereditary hemochromatosis | We investigated 6 polymorphisms (rs10421768 in HAMP gene, rs235756 in BMP2 gene,... | BeFree | 25976471 | Detail |
| 0.125 | Hereditary hemochromatosis | We investigated 6 polymorphisms (rs10421768 in HAMP gene, rs235756 in BMP2 gene,... | BeFree | 25976471 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000020.11:g.6786464A>G AND Lung cancer | ClinVar | Detail |
| To evaluate the association of genetic variants in genes involved in iron delivery and hepcidin regu... | DisGeNET | Detail |
| Our results make it likely the role of rs10421768, rs235756, rs2230267 and rs1439816 polymorphisms, ... | DisGeNET | Detail |
| We investigated 6 polymorphisms (rs10421768 in HAMP gene, rs235756 in BMP2 gene, rs2230267 in FTL ge... | DisGeNET | Detail |
| We investigated 6 polymorphisms (rs10421768 in HAMP gene, rs235756 in BMP2 gene, rs2230267 in FTL ge... | DisGeNET | Detail |
- Gene
- -
- dbSNP
- rs235756 dbSNP
- Genome
- hg38
- Position
- chr20:6,786,464-6,786,464
- 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))
- rs235756
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.1023
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 1715
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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