Rs1992660

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Orientationminus
is asnp
is mentioned by
dbSNPrs1992660
PheGenIrs1992660
nextbiors1992660
hapmaprs1992660
1000 genomesrs1992660
hgdprs1992660
ensemblrs1992660
gopubmedrs1992660
geneviewrs1992660
scholarrs1992660
googlers1992660
pharmgkbrs1992660
gwascentralrs1992660
openSNPrs1992660
23andMers1992660
23andMe allrs1992660
SNP Nexus

SNPshotrs1992660
SNPdbers1992660
MSV3drs1992660
GenePTGER4
Chromosome5
Orientationminus
GMAF0.4619
Position40415067
ReferenceGRCh37 37.1/131
Max Magnitude
Geno Mag Summary
(A;A) increased risk for Crohn's disease
(A;G)  ?
(G;G) 0.72x decreased risk for Crohn's disease
? (A;A) (A;G) (G;G) 28
rs1992660 is a SNP upstream of the PTGER4 gene that was found in a genome-wide association study to be associated with Crohn's disease.

In several European populations, the most common allele, rs1992660(A), was associated with increased risk for Crohn's disease. Conversely, the odds ratio (pooled over several populations) for the minor allele, rs1992660(G), was 0.72 (CI: 0.60-0.86, p=0.0005).[PMID 17684544OA-icon.png]

GWAS
SNP rs1992660
PubMedID [PMID 17684544OA-icon.png]
Condition Irritable bowel syndrome
Gene PTGER4
Risk Allele
pValue 4.00E-007
OR 1.42
95% CI 1.24-1.67


OMIM612262
DescINFLAMMATORY BOWEL DISEASE 18; IBD18
Variant
Relatedalso



GET Evidence
rs1992660
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.563492
summary