Rs2816316

Orientation

minus

is a	snp
is	mentioned by
dbSNP	rs2816316
PheGenI	rs2816316
nextbio	rs2816316
hapmap	rs2816316
1000 genomes	rs2816316
hgdp	rs2816316
ensembl	rs2816316
gopubmed	rs2816316
geneview	rs2816316
scholar	rs2816316
google	rs2816316
pharmgkb	rs2816316
gwascentral	rs2816316
openSNP	rs2816316
23andMe	rs2816316
23andMe all	rs2816316
SNP Nexus
SNPshot	rs2816316
SNPdbe	rs2816316
MSV3d	rs2816316

Chromosome

1

Orientation

minus

GMAF

0.2234

Position

192536813

Reference

GRCh37 37.1/131

Max Magnitude

Make rs2816316(G;G)

Make rs2816316(G;T)

Make rs2816316(T;T)

?	(G;G) (G;T) (T;T)	28

GWAS
SNP	rs2816316
PubMedID	[PMID 18311140]
Condition	Celiac disease
Gene	RGS1
Risk Allele	C
pValue	3.00E-011
OR	1.39
95% CI	1.26-1.53

OMIM	212750
Desc	CELIAC DISEASE; CD
Variant
Related	also

OMIM	612005
Desc	CELIAC DISEASE, SUSCEPTIBILITY TO, 7; CELIAC7
Variant
Related	also

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

GWAS snp
PMID	[PMID 20190752]
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 22087237] Improving the estimation of celiac disease sibling risk by non-HLA genes

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

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

[PMID 19073967] 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