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rs2188962

From SNPedia

Orientationplus
Stabilizedplus
Make rs2188962(C;C)
Make rs2188962(C;T)
Make rs2188962(T;T)
ReferenceGRCh38 38.1/141
Chromosome5
Position132435113
GeneC5orf56
is asnp
is mentioned by
dbSNPrs2188962
ebirs2188962
HLIrs2188962
Exacrs2188962
Varsomers2188962
Maprs2188962
PheGenIrs2188962
hapmaprs2188962
1000 genomesrs2188962
hgdprs2188962
ensemblrs2188962
gopubmedrs2188962
geneviewrs2188962
scholarrs2188962
googlers2188962
pharmgkbrs2188962
gwascentralrs2188962
openSNPrs2188962
23andMers2188962
23andMe allrs2188962
SNP Nexus

SNPshotrs2188962
SNPdbers2188962
MSV3drs2188962
GWAS Ctlgrs2188962
GMAF0.1896
Max Magnitude
? (C;C) (C;T) (T;T) 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 T
P-val 2.0000000000000001E-18
Odds Ratio 1.25 [NR]
OMIM606348
DescINFLAMMATORY BOWEL DISEASE 5; IBD5
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 1E-7
Odds Ratio 1.36 [1.21-1.52]


[PMID 21061378] Two independent genetic factors responsible for the associations of the IBD5 locus with Crohn's disease in the Czech population


[PMID 21674708] Two independent genetic factors responsible for the associations of the IBD5 locus with Crohn's disease in the Czech population

[PMID 19408013OA-icon.png] Strategies and issues in the detection of pathway enrichment in genome-wide association studies.

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

[PMID 20031576OA-icon.png] Association of novel genetic Loci with circulating fibrinogen levels: a genome-wide association study in 6 population-based cohorts.

[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
rs2188962
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.195312
summary



GWAS snp
PMID [PMID 23128233OA-icon.png]
Trait Inflammatory bowel disease
Title Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Risk Allele T
P-val 1E-52
Odds Ratio 1.16 [1.125-1.191]