chr13:44479000:A>G Detail (hg19) (LACC1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:44,479,000-44,479,000 |
| hg38 | chr13:43,904,864-43,904,864 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:0.313 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:[No Data.] |
Prediction
ClinVar
| Clinical Significance | Uncertain risk allele |
| Review star |  |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
| Uncertain risk allele | 2022-06-10 | no assertion criteria provided | Leprosy, susceptibility to, 1 |
inherited
|
Detail |
CIViC
[No Data.]
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NC_000013.11:g.43904864A>G AND Leprosy, susceptibility to, 1 | ClinVar | Detail |
| NA | DisGeNET | Detail |
- Gene
- -
- Genome
- hg19
- Position
- chr13:44,479,000-44,479,000
- 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))
- rs10507522
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.3129
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 5244
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
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