chr6:33054861:A>G Detail (hg19) (HLA-DPB1)

Information

Genome

Assembly Position
hg19 chr6:33,054,861-33,054,861
hg38 chr6:33,087,084-33,087,084 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002121.5:c.*550A>G
Ensemble ENST00000416804.2:c.*537A>G
ENST00000428835.6:c.*550A>G
Summary

MGeND

Clinical significance not provided
Variant entry
GWAS entry 460
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.578
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 142858 OMIM
HGNC 4940 HGNC
Ensembl ENSG00000223865 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24871594 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
not provided hepatitis B MGS000027
(TMGS000047) 		Masashi Mizokami National Center for Global Health and Medicine
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 By using logistic regression analysis, these two SNPs in the HLA-DPA1 and HLA-DP... BeFree 21904616 Detail
0.123 hepatitis B By using logistic regression analysis, these two SNPs in the HLA-DPA1 and HLA-DP... BeFree 21904616 Detail
0.251 Hepatitis B, Chronic Chronic hepatitis B susceptibility loci in HLA-DP region (rs3077 and rs9277535) ... BeFree 21408128 Detail
0.132 hepatitis B Two single nucleotide polymorphisms (SNP), rs3077 near HLA-DPA1 region and rs927... BeFree 23326374 Detail
0.132 hepatitis B In addition, Uygurs have higher frequencies of HLA-DP/DQ protective alleles (72.... BeFree 25041342 Detail
0.132 hepatitis B Association of the rs3077 and rs9277535 polymorphisms in HLA-DP with hepatitis B... BeFree 23601003 Detail
0.001 Hepatitis B, Chronic A genome-wide association study identified single nucleotide polymorphisms (SNPs... BeFree 21346778 Detail
0.004 liver carcinoma HLA-DP/DQ polymorphisms (rs3077, rs9277535, rs7453920) did not associate with HC... BeFree 25365208 Detail
0.123 hepatitis B Two single nucleotide polymorphisms (SNP), rs3077 near HLA-DPA1 region and rs927... BeFree 23326374 Detail
0.123 hepatitis B Japanese patients (202) who were hepatitis B e antigen positive at baseline, rec... BeFree 25103089 Detail
0.251 Hepatitis B, Chronic These appear to implicate HLA-DR [rs3135363; P= 6.53 × 10(-22); odds ratio (OR) ... BeFree 21764829 Detail
0.251 Hepatitis B, Chronic [To identify host genetic factors that are associated with chronic hepatitis B (... GAD 21750111 Detail
0.132 hepatitis B Our findings show that genetic variants in the HLA-DP locus are strongly associa... GWASCAT 19349983 Detail
0.251 Hepatitis B, Chronic The genome-wide association study (GWAS) variant (rs9277535; 550A/G) in the 3'UT... BeFree 22496224 Detail
0.132 hepatitis B [Our findings show that genetic variants in the HLA-DP locus are strongly associ... GAD 19349983 Detail
0.132 hepatitis B To clarify the pathogenesis of CHB and the mechanisms of HBV clearance, further ... GWASCAT 22737229 Detail
0.251 Hepatitis B, Chronic A genome-wide association study on chronic HBV infection and its clinical progre... GWASCAT 24940741 Detail
0.004 hepatitis B A phylogenetic analysis revealed that the isolated HBV was genotype H. In this p... BeFree 24659896 Detail
0.132 hepatitis B These findings indicated that variants in antigen-binding regions of HLA-DP and ... GWASCAT 21750111 Detail
0.251 Hepatitis B, Chronic A genome-wide association study identified new variants associated with the risk... GWASCAT 23760081 Detail
0.251 Hepatitis B, Chronic Genetic variants in five novel loci including CFB and CD40 predispose to chronic... GWASCAT 25802187 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
By using logistic regression analysis, these two SNPs in the HLA-DPA1 and HLA-DPB1 genes were signif... DisGeNET Detail
By using logistic regression analysis, these two SNPs in the HLA-DPA1 and HLA-DPB1 genes were signif... DisGeNET Detail
Chronic hepatitis B susceptibility loci in HLA-DP region (rs3077 and rs9277535) identified by genome... DisGeNET Detail
Two single nucleotide polymorphisms (SNP), rs3077 near HLA-DPA1 region and rs9277535 near HLA-DPB1 r... DisGeNET Detail
In addition, Uygurs have higher frequencies of HLA-DP/DQ protective alleles (72.5% for rs3077, 76.6%... DisGeNET Detail
Association of the rs3077 and rs9277535 polymorphisms in HLA-DP with hepatitis B virus infection and... DisGeNET Detail
A genome-wide association study identified single nucleotide polymorphisms (SNPs) rs3077 and rs92775... DisGeNET Detail
HLA-DP/DQ polymorphisms (rs3077, rs9277535, rs7453920) did not associate with HCC development, but d... DisGeNET Detail
Two single nucleotide polymorphisms (SNP), rs3077 near HLA-DPA1 region and rs9277535 near HLA-DPB1 r... DisGeNET Detail
Japanese patients (202) who were hepatitis B e antigen positive at baseline, received LAM as first-l... DisGeNET Detail
These appear to implicate HLA-DR [rs3135363; P= 6.53 × 10(-22); odds ratio (OR) = 1.53, 95% confiden... DisGeNET Detail
[To identify host genetic factors that are associated with chronic hepatitis B (CHB) susceptibility,... DisGeNET Detail
Our findings show that genetic variants in the HLA-DP locus are strongly associated with risk of per... DisGeNET Detail
The genome-wide association study (GWAS) variant (rs9277535; 550A/G) in the 3'UTR of the HLA-DPB1 ge... DisGeNET Detail
[Our findings show that genetic variants in the HLA-DP locus are strongly associated with risk of pe... DisGeNET Detail
To clarify the pathogenesis of CHB and the mechanisms of HBV clearance, further studies are necessar... DisGeNET Detail
A genome-wide association study on chronic HBV infection and its clinical progression in male Han-Ta... DisGeNET Detail
A phylogenetic analysis revealed that the isolated HBV was genotype H. In this patient, the elevated... DisGeNET Detail
These findings indicated that variants in antigen-binding regions of HLA-DP and HLA-DQ contribute to... DisGeNET Detail
A genome-wide association study identified new variants associated with the risk of chronic hepatiti... DisGeNET Detail
Genetic variants in five novel loci including CFB and CD40 predispose to chronic hepatitis B. DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs9277535 dbSNP
Genome
hg19
Position
chr6:33,054,861-33,054,861
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))
rs9277535
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5777
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9682
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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