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rs3790567

From SNPedia

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ReferenceGRCh38 38.1/141
Chromosome1
Position67356694
GeneIL12RB2
is asnp
is mentioned by
dbSNPrs3790567
ebirs3790567
HLIrs3790567
Exacrs3790567
Varsomers3790567
Maprs3790567
PheGenIrs3790567
hapmaprs3790567
1000 genomesrs3790567
hgdprs3790567
ensemblrs3790567
gopubmedrs3790567
geneviewrs3790567
scholarrs3790567
googlers3790567
pharmgkbrs3790567
gwascentralrs3790567
openSNPrs3790567
23andMers3790567
23andMe allrs3790567
SNP Nexus

SNPshotrs3790567
SNPdbers3790567
MSV3drs3790567
GWAS Ctlgrs3790567
GMAF0.3604
Max Magnitude
? (A;A) (A;G) (G;G) 28
23andMe blog


[PMID 19458352OA-icon.png] Primary Biliary Cirrhosis Associated with HLA, IL12A, and IL12RB2 Variants


GWAS snp
PMID [PMID 20639880OA-icon.png]
Trait Primary biliary cirrhosis
Title Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis
Risk Allele A
P-val 8E-12
Odds Ratio 1.48 [NR]


[PMID 21285166] Role of rs1343151 IL23R and rs3790567 IL12RB2 Polymorphisms in Biopsy-proven Giant Cell Arteritis

OMIM613008
Desc
Variant
Relatedalso
[PMID 18598732OA-icon.png] Vaccine immunogenetics: bedside to bench to population.

[PMID 21506939] Replicated association of 17q12-21 with susceptibility of primary biliary cirrhosis in a Japanese cohort.

[PMID 22076442OA-icon.png] A GWAS follow-up study reveals the association of the IL12RB2 gene with systemic sclerosis in Caucasian populations.


GET Evidence
rs3790567
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.5
summary



Primary Biliary Cirrhosis: Preliminary Research


[PMID 23009887OA-icon.png] Impact of cytokine and cytokine receptor gene polymorphisms on cellular immunity after smallpox vaccination.


[PMID 24997981] Association study between interleukin-12 receptor β1/β2 genes and allergic rhinitis in the Chinese Han population


[PMID 25720506] Autoimmune risk loci of IL12RB2, IKZF1, XKR6, TMEM39A and CSK in Chinese patients with systemic lupus erythematosus