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rs917997

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0
Make rs917997(A;A)
Make rs917997(A;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position102454108
GeneIL18RAP
is asnp
is mentioned by
dbSNPrs917997
ebirs917997
HLIrs917997
Exacrs917997
Varsomers917997
Maprs917997
PheGenIrs917997
hapmaprs917997
1000 genomesrs917997
hgdprs917997
ensemblrs917997
gopubmedrs917997
geneviewrs917997
scholarrs917997
googlers917997
pharmgkbrs917997
gwascentralrs917997
openSNPrs917997
23andMers917997
23andMe allrs917997
SNP Nexus

SNPshotrs917997
SNPdbers917997
MSV3drs917997
GWAS Ctlgrs917997
GMAF0.2773
Max Magnitude0
? (A;A) (A;G) (G;G) 28
OMIM612006
DescCELIAC DISEASE, SUSCEPTIBILITY TO, 8; CELIAC8
Variant
Relatedalso
OMIM266600
DescINFLAMMATORY BOWEL DISEASE 1; IBD1
Variant
Relatedalso
OMIM604494
DescINTERLEUKIN 18 RECEPTOR 1; IL18R1
Variant
Relatedalso
OMIM604509
DescINTERLEUKIN 18 RECEPTOR ACCESSORY PROTEIN; IL18RAP
Variant
Relatedalso


[PMID 19693089] Four novel coeliac disease regions replicated in an association study of a Swedish-Norwegian family cohort


[PMID 19542083] Association of IL18RAP and CCR3 with coeliac disease in the Spanish population

GWAS snp
PMID [PMID 20190752OA-icon.png]
Trait Celiac disease
Title Multiple common variants for celiac disease influencing immune gene expression
Risk Allele A
P-val 1E-15
Odds Ratio 1.19 [1.14-1.25]
OMIM212750
Desc
Variant
Relatedalso


[PMID 22664470] Genes of the Interleukin-18 Pathway Are Associated With Susceptibility to Barrett's Esophagus and Esophageal Adenocarcinoma

[PMID 18311140OA-icon.png] Newly identified genetic risk variants for celiac disease related to the immune response.

[PMID 18587394OA-icon.png] Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease.

[PMID 18713140OA-icon.png] Translational mini-review series on the immunogenetics of gut disease: immunogenetics of coeliac disease.

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

[PMID 19073967OA-icon.png] Shared and distinct genetic variants in type 1 diabetes and celiac disease.

[PMID 19103669] Association study of the IL18RAP locus in three European populations with coeliac disease.

[PMID 19468064OA-icon.png] Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions.

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

[PMID 20353565OA-icon.png] Allelic variants of IL1R1 gene associate with severe hand osteoarthritis.

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


GET Evidence
rs917997
aa_change
aa_change_short
impact pharmacogenetic
qualified_impact Insufficiently evaluated pharmacogenetic
overall_frequency 0.851562
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 3E-20
Odds Ratio 1.10 [1.067-1.14]


[PMID 24871462] Coeliac disease-associated polymorphisms influence thymic gene expression


[PMID 26566691] Polymorphisms of ST2-IL18R1-IL18RAP gene cluster: a new risk for autoimmune thyroid diseases