chr13:43904864:A>G Detail (hg38) (LACC1)

Information

Genome

Assembly Position
hg19 chr13:44,479,000-44,479,000 View the variant detail on this assembly version.
hg38 chr13:43,904,864-43,904,864

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.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.126 leprosy NA GAD Detail
Annotation

Annotations

DescrptionSourceLinks
NC_000013.11:g.43904864A>G AND Leprosy, susceptibility to, 1 ClinVar Detail
NA DisGeNET Detail
Gene
-
Genome
hg38
Position
chr13:43,904,864-43,904,864
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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