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rs2872507

From SNPedia

Orientationplus
Stabilizedplus
Make rs2872507(A;A)
Make rs2872507(A;G)
Make rs2872507(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position39884510
is asnp
is mentioned by
dbSNPrs2872507
ebirs2872507
HLIrs2872507
Exacrs2872507
Varsomers2872507
Maprs2872507
PheGenIrs2872507
hapmaprs2872507
1000 genomesrs2872507
hgdprs2872507
ensemblrs2872507
gopubmedrs2872507
geneviewrs2872507
scholarrs2872507
googlers2872507
pharmgkbrs2872507
gwascentralrs2872507
openSNPrs2872507
23andMers2872507
23andMe allrs2872507
SNP Nexus

SNPshotrs2872507
SNPdbers2872507
MSV3drs2872507
GWAS Ctlgrs2872507
GMAF0.3627
Max Magnitude
? (A;A) (A;G) (G;G) 28
GWAS snp
PMID [PMID 18587394OA-icon.png]
Trait Crohn's disease
Title Genome-wide assocation defines more than 30 distinct susceptibility loci for Crohn's disease
Risk Allele A
P-val 5.0000000000000001E-9
Odds Ratio 1.12 [NR]
OMIM612380
DescINFLAMMATORY BOWEL DISEASE 22; IBD22
Variant
Relatedalso
GWAS snp
PMID [PMID 20453842OA-icon.png]
Trait Rheumatoid arthritis
Title Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk lock
Risk Allele A
P-val 9E-7
Odds Ratio 1.10 [NR]

[PMID 21072187OA-icon.png] Evidence for Significant Overlap between Common Risk Variants for Crohn's Disease and Ankylosing Spondylitis

GWAS snp
PMID [PMID 21297633OA-icon.png]
Trait
Title Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
Risk Allele A
P-val 5E-11
Odds Ratio 1.1500 [1.10-1.19]


[PMID 21752155OA-icon.png] Genetic susceptibility to inflammation and colonic transit in lower functional gastrointestinal disorders: preliminary analysis

GWAS snp
PMID [PMID 21829393OA-icon.png]
Trait
Title Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
Risk Allele A
P-val 0.000002
Odds Ratio 1.1000 [NR]


[PMID 22365150OA-icon.png] Use of a multiethnic approach to identify rheumatoid- arthritis-susceptibility loci, 1p36 and 17q12

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

[PMID 19264973OA-icon.png] Assessing the reproducibility of asthma candidate gene associations, using genome-wide data.

[PMID 19474294OA-icon.png] Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.

[PMID 19732864OA-icon.png] Allele-specific chromatin remodeling in the ZPBP2/GSDMB/ORMDL3 locus associated with the risk of asthma and autoimmune disease.

[PMID 20369022OA-icon.png] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.

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


GET Evidence
rs2872507
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.34127
summary



GWAS snp
PMID [PMID 21102463OA-icon.png]
Trait Crohn's disease
Title Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
Risk Allele A
P-val 2E-9
Odds Ratio 1.14 [1.09-1.19]


[PMID 22694930OA-icon.png] Genome-wide association studies of asthma indicate opposite immunopathogenesis direction from autoimmune diseases.


[PMID 22986918] Association among ORMDL3 gene expression, 17q21 polymorphism and response to treatment with inhaled corticosteroids in children with asthma.