chr6:33050279:A>G Detail (hg19) (HLA-DPB1)

Information

Genome

Assembly Position
hg19 chr6:33,050,279-33,050,279
hg38 chr6:33,082,502-33,082,502 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002121.5:c.364+1567A>G
Ensemble ENST00000428835.6:c.52+1567A>G
ENST00000416804.2:c.52+1567A>G
Summary

MGeND

Clinical significance not provided
Variant entry
GWAS entry 461
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.573
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 tgv24871207 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
0.123 hepatitis B We genotyped SNPs rs3077 (near HLA-DPA1) and rs9277378 and rs3128917 (both near ... BeFree 23825586 Detail
Annotation

Annotations

DescrptionSourceLinks
We genotyped SNPs rs3077 (near HLA-DPA1) and rs9277378 and rs3128917 (both near HLA-DPB1) in 500 HBV... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs9277378 dbSNP
Genome
hg19
Position
chr6:33,050,279-33,050,279
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))
rs9277378
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.573
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9604
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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