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rs10045431

From SNPedia

Orientationplus
Stabilizedplus
Make rs10045431(A;A)
Make rs10045431(A;C)
Make rs10045431(C;C)
ReferenceGRCh38 38.1/141
Chromosome5
Position159387525
is asnp
is mentioned by
dbSNPrs10045431
ebirs10045431
HLIrs10045431
Exacrs10045431
Varsomers10045431
Maprs10045431
PheGenIrs10045431
hapmaprs10045431
1000 genomesrs10045431
hgdprs10045431
ensemblrs10045431
gopubmedrs10045431
geneviewrs10045431
scholarrs10045431
googlers10045431
pharmgkbrs10045431
gwascentralrs10045431
openSNPrs10045431
23andMers10045431
23andMe allrs10045431
SNP Nexus

SNPshotrs10045431
SNPdbers10045431
MSV3drs10045431
GWAS Ctlgrs10045431
GMAF0.1758
Max Magnitude
? (A;A) (A;C) (C;C) 28
GWAS
SNP rs10045431
PubMedID [PMID 18587394OA-icon.png]
Condition Crohn's disease
Gene IL12B
Risk Allele C
pValue 4.00E-013
OR 1.11
95% CI


OMIM612278
DescINFLAMMATORY BOWEL DISEASE 19; IBD19
Variant
Relatedalso
OMIM612599
DescPSORIASIS SUSCEPTIBILITY 11; PSORS11
Variant
Relatedalso


GWAS snp
PMID [PMID 20570966OA-icon.png]
Trait Crohn's disease
Title Fucosyltransferase 2(FUT2) Non-Secretor Status is associated with Crohn's Disease
Risk Allele
P-val 7E-8
Odds Ratio 1.45 [1.27-1.64]

DeCode reports that rs10045431 affects susceptibility to Crohn's disease. [PMID 18587394OA-icon.png]

[PMID 17587057] Sequence variants in the genes for the interleukin-23 receptor (IL23R) and its ligand (IL12B) confer protection against psoriasis.

[PMID 18438406OA-icon.png] Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease.

[PMID 19068216OA-icon.png] Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.

[PMID 19468064OA-icon.png] Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions.

[PMID 19557189OA-icon.png] Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions.

[PMID 21304977OA-icon.png] An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.


GET Evidence
rs10045431
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.859375
summary



[PMID 22194214] Replication study of 10 genes showing evidence for association with multiple sclerosis: validation of TMEM39A, IL12B and CBLB [correction of CLBL] genes