chr6:32730012:A>G Detail (hg19) (HLA-DQB2)

Information

Genome

Assembly Position
hg19 chr6:32,730,012-32,730,012
hg38 chr6:32,762,235-32,762,235 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001198858.1:c.98-309T>C
NM_001300790.1:c.98-309T>C
Ensemble ENST00000411527.5:c.98-309T>C
Summary

MGeND

Clinical significance not provided
Variant entry
GWAS entry 173
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.829
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
Type Database ID Link
Gene MIM 615161 OMIM
HGNC 4945 HGNC
Ensembl ENSG00000232629 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24858931 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided hepatitis B MGS000002
(TMGS000002) 		Masashi Mizokami National Center for Global Health and Medicine
not provided biliary cirrhosis, primary not provided MGS000089
(TMGS000168) 		Minoru Nakamura
Minoru Nakamura		 National Hospital Organization Nagasaki Medical Center
National Hospital Organization Nagasaki Medical Center
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
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
0.132 hepatitis B In addition, Uygurs have higher frequencies of HLA-DP/DQ protective alleles (72.... BeFree 25041342 Detail
0.004 liver carcinoma HLA-DP/DQ polymorphisms (rs3077, rs9277535, rs7453920) did not associate with HC... BeFree 25365208 Detail
0.121 Hepatitis B, Chronic Genetic variants in five novel loci including CFB and CD40 predispose to chronic... GWASCAT 25802187 Detail
0.121 Hepatitis B, Chronic A genome-wide association study identified new variants associated with the risk... GWASCAT 23760081 Detail
Annotation

Annotations

DescrptionSourceLinks
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
In addition, Uygurs have higher frequencies of HLA-DP/DQ protective alleles (72.5% for rs3077, 76.6%... DisGeNET Detail
HLA-DP/DQ polymorphisms (rs3077, rs9277535, rs7453920) did not associate with HCC development, but d... DisGeNET Detail
Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B. DisGeNET Detail
A genome-wide association study identified new variants associated with the risk of chronic hepatiti... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs7453920 dbSNP
Genome
hg19
Position
chr6:32,730,012-32,730,012
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))
rs7453920
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8294
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
13901
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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