Rs2816316

From SNPedia
Jump to: navigation, search

Orientationminus
Make rs2816316(G;G)
Make rs2816316(G;T)
Make rs2816316(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position192567683
is asnp
is mentioned by
dbSNPrs2816316
PheGenIrs2816316
nextbiors2816316
hapmaprs2816316
1000 genomesrs2816316
hgdprs2816316
ensemblrs2816316
gopubmedrs2816316
geneviewrs2816316
scholarrs2816316
googlers2816316
pharmgkbrs2816316
gwascentralrs2816316
openSNPrs2816316
23andMers2816316
23andMe allrs2816316
SNP Nexus

SNPshotrs2816316
SNPdbers2816316
MSV3drs2816316
GMAF0.2227
Max Magnitude
? (G;G) (G;T) (T;T) 28
GWAS
SNP rs2816316
PubMedID [PMID 18311140OA-icon.png]
Condition Celiac disease
Gene RGS1
Risk Allele C
pValue 3.00E-011
OR 1.39
95% CI 1.26-1.53


OMIM212750
DescCELIAC DISEASE; CD
Variant
Relatedalso
OMIM612005
DescCELIAC DISEASE, SUSCEPTIBILITY TO, 7; CELIAC7
Variant
Relatedalso

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


GWAS snp
PMID [PMID 20190752OA-icon.png]
Trait Celiac disease
Title Multiple common variants for celiac disease influencing immune gene expression
Risk Allele
P-val 2E-17
Odds Ratio 1.25 [1.19-1.32]


[PMID 22087237OA-icon.png] Improving the estimation of celiac disease sibling risk by non-HLA genes

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

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


GET Evidence
rs2816316
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.811321
summary