chr6:33087470:T>C Detail (hg38) (HLA-DPB1)

Information

Genome

Assembly Position
hg19 chr6:33,055,247-33,055,247 View the variant detail on this assembly version.
hg38 chr6:33,087,470-33,087,470

HGVS

Type Transcript Protein
RefSeq NM_002121.5:c.*936T>C
Ensemble ENST00000418931.7:c.*936T>C
ENST00000428835.6:c.*936T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.577
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 tgv24871612 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.248 Hepatitis B, Chronic We also found that the HLA-DPA1 and HLA-DPB1 genes were significantly associated... BeFree 22737229 Detail
Annotation

Annotations

DescrptionSourceLinks
We also found that the HLA-DPA1 and HLA-DPB1 genes were significantly associated with protective eff... 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
rs9277542 dbSNP
Genome
hg38
Position
chr6:33,087,470-33,087,470
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs9277542
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5774
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9677
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
Genome browser