chr6:32762309:G>A Detail (hg38) (HLA-DQB2)

Information

Genome

Assembly Position
hg19 chr6:32,730,086-32,730,086 View the variant detail on this assembly version.
hg38 chr6:32,762,309-32,762,309

HGVS

Type Transcript Protein
RefSeq NM_001198858.1:c.98-383C>T
NM_001300790.1:c.98-383C>T
Ensemble ENST00000411527.5:c.98-383C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
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 tgv24858935 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
0.125 Lupus Erythematosus, Systemic Genome-wide pathway analysis of genome-wide association studies on systemic lupu... GWASCAT 23053960 Detail
Annotation

Annotations

DescrptionSourceLinks
Genome-wide pathway analysis of genome-wide association studies on systemic lupus erythematosus and ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2051549 dbSNP
Genome
hg38
Position
chr6:32,762,309-32,762,309
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs2051549
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))
13900
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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