chr17:27807685:C>T Detail (hg38)

Information

Genome

Assembly Position
hg19 chr17:26,134,711-26,134,711 View the variant detail on this assembly version.
hg38 chr17:27,807,685-27,807,685

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.329
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 Active tuberculosis Multilocus analyses between polymorphisms in SLC11A1 and 11 TB candidate genes d... BeFree 19723394 Detail
<0.001 Active tuberculosis Multilocus analyses between polymorphisms in SLC11A1 and 11 TB candidate genes d... BeFree 19723394 Detail
Annotation

Annotations

DescrptionSourceLinks
Multilocus analyses between polymorphisms in SLC11A1 and 11 TB candidate genes detected interactions... DisGeNET Detail
Multilocus analyses between polymorphisms in SLC11A1 and 11 TB candidate genes detected interactions... DisGeNET Detail
Gene
-
dbSNP
rs8073782 dbSNP
Genome
hg38
Position
chr17:27,807,685-27,807,685
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs8073782
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3286
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5507
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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