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rs6596075

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2x risk of Crohn's disease
(C;G) 1.5x risk
(G;G) normal
ReferenceGRCh38 38.1/141
Chromosome5
Position132406536
GeneIBD5
is asnp
is mentioned by
dbSNPrs6596075
ebirs6596075
HLIrs6596075
Exacrs6596075
Varsomers6596075
Maprs6596075
PheGenIrs6596075
hapmaprs6596075
1000 genomesrs6596075
hgdprs6596075
ensemblrs6596075
gopubmedrs6596075
geneviewrs6596075
scholarrs6596075
googlers6596075
pharmgkbrs6596075
gwascentralrs6596075
openSNPrs6596075
23andMers6596075
23andMe allrs6596075
SNP Nexus

SNPshotrs6596075
SNPdbers6596075
MSV3drs6596075
GWAS Ctlgrs6596075
GMAF0.2452
Max Magnitude
? (C;C) (C;G) (G;G) 28
rs6596075 has been reported in a large study to be associated with Crohn's disease.

The risk allele (oriented to the dbSNP entry) is (C); the odds ratio associated with heterozygotes is 1.55 (CI 1.00-2.39), and for homozygotes, 2.06 (CI 1.35-3.14). [PMID 17554300OA-icon.png]

OMIM606348
DescINFLAMMATORY BOWEL DISEASE 5; IBD5
Variant
Relatedalso


[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 18614543OA-icon.png] The 5q31 variants associated with psoriasis and Crohn's disease are distinct.


[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.


GET Evidence
rs6596075
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.65625
summary