chr6:32632832:A>T Detail (hg19) (HLA-DQB1)

Information

Genome

Assembly Position
hg19 chr6:32,632,832-32,632,832
hg38 chr6:32,665,055-32,665,055 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001243961.1:c.122T>A NP_001230890.1:p.Phe41Tyr
NM_002123.4:c.122T>A NP_002114.3:p.Phe41Tyr
Ensemble ENST00000374943.8:c.122T>A ENST00000374943.8:p.Phe41Tyr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.582
ToMMo:0.587
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.741

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 604305 OMIM
HGNC 4944 HGNC
Ensembl ENSG00000179344 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv24852225 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
0.008 leprosy NA GAD Detail
0.242 Drug-Induced Liver Injury Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by ... GWASCAT 21570397 Detail
0.242 Drug-Induced Liver Injury [Class I and II HLA genotypes affect susceptibility to AC-DILI, indicating the i... GAD 21570397 Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
Susceptibility to amoxicillin-clavulanate-induced liver injury is influenced by multiple HLA class I... DisGeNET Detail
[Class I and II HLA genotypes affect susceptibility to AC-DILI, indicating the importance of the ada... 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
-
Genome
hg19
Position
chr6:32,632,832-32,632,832
Variant Type
snv
Reference Allele
A
Alternative Allele
T
Filtering Status (HGVD)
PASS
Filtering Status (HGVD)
VQSRTrancheSNP99.00to99.90
# of samples (HGVD)
1077
Mean of sample read depth (HGVD)
83.92
Standard deviation of sample read depth (HGVD)
50.22
Number of reference allele (HGVD)
901
Number of alternative allele (HGVD)
1253
Allele Frequency (HGVD)
0.5817084493964717
Gene Symbol (HGVD)
HLA-DQB1
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))
rs9274407
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.587
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9838
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
7754
East Asian Allele Counts (ExAC)
5745
East Asian Heterozygous Counts (ExAC)
1381
East Asian Homozygous Counts (ExAC)
2182
East Asian Allele Frequency (ExAC)
0.7409079184936807
Chromosome Counts in All Race (ExAC)
105070
Allele Counts in All Race (ExAC)
82657
Heterozygous Counts in All Race (ExAC)
15031
Homozygous Counts in All Race (ExAC)
33813
Allele Frequency in All Race (ExAC)
0.786685067098125
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