chr1:67822377:A>G Detail (hg19) (IL12RB2)

Information

Genome

Assembly Position
hg19 chr1:67,822,377-67,822,377
hg38 chr1:67,356,694-67,356,694 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001258214.1:c.1258+5605A>G
NM_001319233.1:c.1258+5605A>G
NM_001258215.1:c.1258+5605A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.761
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 601642 OMIM
HGNC 5972 HGNC
Ensembl ENSG00000081985 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv1861255 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
<0.001 Giant Cell Arteritis Role of rs1343151 IL23R and rs3790567 IL12RB2 polymorphisms in biopsy-proven gia... BeFree 21285166 Detail
<0.001 Giant Cell Arteritis Role of rs1343151 IL23R and rs3790567 IL12RB2 polymorphisms in biopsy-proven gia... BeFree 21285166 Detail
0.007 Biliary cirrhosis [Genome-wide meta-analyses identify three loci associated with primary biliary c... GAD 20639880 Detail
0.123 Primary biliary cirrhosis Genome-wide meta-analyses identify three loci associated with primary biliary ci... GWASCAT 20639880 Detail
0.007 Biliary cirrhosis [Our data show significant associations between primary biliary cirrhosis and co... GAD 19458352 Detail
0.123 Primary biliary cirrhosis [Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.] GAD 19458352 Detail
0.123 Primary biliary cirrhosis Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. GWASCAT 19458352 Detail
Annotation

Annotations

DescrptionSourceLinks
Role of rs1343151 IL23R and rs3790567 IL12RB2 polymorphisms in biopsy-proven giant cell arteritis. DisGeNET Detail
Role of rs1343151 IL23R and rs3790567 IL12RB2 polymorphisms in biopsy-proven giant cell arteritis. DisGeNET Detail
[Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis.] DisGeNET Detail
Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. DisGeNET Detail
[Our data show significant associations between primary biliary cirrhosis and common genetic variant... DisGeNET Detail
[Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.] DisGeNET Detail
Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs3790567 dbSNP
Genome
hg19
Position
chr1:67,822,377-67,822,377
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))
rs3790567
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.7613
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
12759
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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