chr6:32702478:C>T Detail (hg38)

Information

Genome

Assembly Position
hg19 chr6:32,670,255-32,670,255 View the variant detail on this assembly version.
hg38 chr6:32,702,478-32,702,478

HGVS

[No Data.]
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.481
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
0.043 Lupus Erythematosus, Systemic [We identified and then confirmed through replication two new genetic loci for S... GAD 18204098 Detail
0.009 hepatitis B This was a retrospective cohort study.We genotyped seven SNPs in the following g... BeFree 25376093 Detail
0.011 hepatitis B This was a retrospective cohort study.We genotyped seven SNPs in the following g... BeFree 25376093 Detail
0.018 hepatitis B Our study demonstrated the clear relevance of HLA-DQ rs2856718 and rs9275572 wit... BeFree 24750255 Detail
0.016 Hepatitis B, Chronic [A genome-wide association study of chronic hepatitis B identified novel risk lo... GAD 21750111 Detail
Annotation

Annotations

DescrptionSourceLinks
[We identified and then confirmed through replication two new genetic loci for SLE: a promoter-regio... DisGeNET Detail
This was a retrospective cohort study.We genotyped seven SNPs in the following genes, interleukin (I... DisGeNET Detail
This was a retrospective cohort study.We genotyped seven SNPs in the following genes, interleukin (I... DisGeNET Detail
Our study demonstrated the clear relevance of HLA-DQ rs2856718 and rs9275572 with HBV susceptibility... DisGeNET Detail
[A genome-wide association study of chronic hepatitis B identified novel risk locus in a Japanese po... DisGeNET Detail
Gene
-
dbSNP
rs2856718 dbSNP
Genome
hg38
Position
chr6:32,702,478-32,702,478
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))
rs2856718
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4805
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8053
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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