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rs17234657

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
(G;G) 2.3x risk
(G;T) 1.5x risk
(T;T) 0 normal
ReferenceGRCh38 38.1/141
Chromosome5
Position40401407
is asnp
is mentioned by
dbSNPrs17234657
ebirs17234657
HLIrs17234657
Exacrs17234657
Varsomers17234657
Maprs17234657
PheGenIrs17234657
hapmaprs17234657
1000 genomesrs17234657
hgdprs17234657
ensemblrs17234657
gopubmedrs17234657
geneviewrs17234657
scholarrs17234657
googlers17234657
pharmgkbrs17234657
gwascentralrs17234657
openSNPrs17234657
23andMers17234657
23andMe allrs17234657
SNP Nexus

SNPshotrs17234657
SNPdbers17234657
MSV3drs17234657
GWAS Ctlgrs17234657
GMAF0.1097
Max Magnitude0
? (G;G) (G;T) (T;T) 28
rs17234657 has been reported in a large study to be associated with Crohn's disease. [PMID 17554261OA-icon.png]

The risk allele (oriented to the dbSNP entry) is (G); the odds ratio associated with heterozygotes is 1.54 (CI 1.34-1.76), and for homozygotes, 2.32 (CI 1.59-3.39). [PMID 17554300OA-icon.png]


[PMID 19174780] Confirmation of multiple Crohn's disease susceptibility loci in a large Dutch-Belgian cohort

OMIM612262
DescINFLAMMATORY BOWEL DISEASE 18; IBD18
Variant
Relatedalso


[PMID 19953089] Differences in genetic background between active smokers, passive smokers, and non-smokers with Crohn's disease


[PMID 18224312OA-icon.png] Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment.


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


[PMID 18533027OA-icon.png] Worldwide population differentiation at disease-associated SNPs.


[PMID 18853133OA-icon.png] Gene variants influencing measures of inflammation or predisposing to autoimmune and inflammatory diseases are not associated with the risk of type 2 diabetes.


[PMID 19140132OA-icon.png] Unbiased estimation of odds ratios: combining genomewide association scans with replication studies.


[PMID 20335276OA-icon.png] PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations.


[PMID 20561984] Study of chromosomal region 5p13.1 in Crohn's disease, ulcerative colitis, and rheumatoid arthritis.


GET Evidence
rs17234657
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.148438
summary