rs3184504

plus

Geno	Mag	Summary
(C;C)	0	normal
(C;T)	1.4	Slightly increased risk for celiac disease
(T;T)	1.5	slightly (1.4x) increased risk for celiac disease

Reference

GRCh38 38.1/141

Chromosome

12

Position

111446804

Gene

SH2B3

is a	snp
is	mentioned by
dbSNP	rs3184504
dbSNP (classic)	rs3184504
ClinGen	rs3184504
ebi	rs3184504
HLI	rs3184504
Exac	rs3184504
Gnomad	rs3184504
Varsome	rs3184504
LitVar	rs3184504
Map	rs3184504
PheGenI	rs3184504
Biobank	rs3184504
1000 genomes	rs3184504
hgdp	rs3184504
ensembl	rs3184504
geneview	rs3184504
scholar	rs3184504
google	rs3184504
pharmgkb	rs3184504
gwascentral	rs3184504
openSNP	rs3184504
23andMe	rs3184504
SNPshot	rs3184504
SNPdbe	rs3184504
MSV3d	rs3184504
GWAS Ctlg	rs3184504

GMAF

0.2181

Max Magnitude

1.5

?

(C;C) (C;T) (T;T)

28

rs3184504 is a nonsynonymous SNP in the SH2B3 gene, and it is also known as R262W.

In a recent (2008) study of non-HLA SNP associations of 1600+ celiac disease patients, this SNP was considered one of the most significant. The odds ratio for the minor allele was 1.19 (CI:1.10-1.30, p=1.33x10e-7). rs653178, another SNP in strong linkage disequilibrium (r²>0.99) with rs3184504, was also associated with celiac disease.[PMID 18311140 ]

[PMID 17554260 ] associated with type-1 diabetes

23andMe blog coronary artery disease and heart attack

SNP Risk Version Effect

rs646776 T 1.19
rs17465637 C 1.14
rs1746048 C 1.17
rs6725887 C 1.17
rs11206510 T 1.15
rs3184504 T 1.13
rs2306374 C 1.15
rs3782886 C 1.44

23andMe blog blood pressure

GWAS snp
PMID	[PMID 24262325 ]
Trait	Coronary artery disease
Title	Shared genetic susceptibility to ischemic stroke and coronary artery disease: a genome-wide analysis of common variants.
Risk Allele	T
P-val	9E-7
Odds Ratio	1.07 [1.04-1.11]

GWAS snp
PMID	[PMID 24026423 ]
Trait	Platelet counts
Title	A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
Risk Allele	T
P-val	5E-11
Odds Ratio	5.33 [NR] unit decrease

GWAS snp
PMID	[PMID 23417110 ]
Trait	Beta-2 microglubulin plasma levels
Title	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.
Risk Allele	C
P-val	3E-8
Odds Ratio	0.02 [0.012-0.028] unit decrease

GWAS snp
PMID	[PMID 23222517 ]
Trait	Red blood cell traits
Title	Seventy-five genetic loci influencing the human red blood cell.
Risk Allele	T
P-val	4E-19 (EA, Hgb)
Odds Ratio	0.051 [0.039-0.063] unit increase

GWAS snp
PMID	[PMID 22493691 ]
Trait	Hypothyroidism
Title	Novel associations for hypothyroidism include known autoimmune risk loci.
Risk Allele	T
P-val	3E-12
Odds Ratio	1.2 [1.14-1.27]

GWAS snp
PMID	[PMID 22139419 ]
Trait	Platelet counts
Title	New gene functions in megakaryopoiesis and platelet formation.
Risk Allele	T
P-val	1E-26
Odds Ratio	3.99 [3.26-4.72] 10^9/l increase

GWAS snp
PMID	[PMID 21909115 ]
Trait	Diastolic blood pressure
Title	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.
Risk Allele	T
P-val	4E-25
Odds Ratio	0.4480 [NR] mmHg increase

GWAS snp
PMID	[PMID 21829393 ]
Trait	Diabetes autoantibodies
Title	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
Risk Allele	T
P-val	2E-38
Odds Ratio	1.3000 [NR]

GWAS snp
PMID	[PMID 21378990 ]
Trait	Coronary heart disease
Title	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease
Risk Allele	T
P-val	0.000006
Odds Ratio	1.0700 [1.04-1.10]

GWAS snp
PMID	[PMID 21829393 ]
Trait	Type 1 diabetes autoantibodies
Title	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.
Risk Allele	T
P-val	2E-38 (T1D)
Odds Ratio	1.3 [NR]

GWAS snp
PMID	[PMID 21378990 ]
Trait	Coronary heart disease
Title	Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease.
Risk Allele	T
P-val	6E-6
Odds Ratio	1.07 [1.04-1.10]

GWAS snp
PMID	[PMID 20453842 ]
Trait	Rheumatoid arthritis
Title	Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.
Risk Allele	T
P-val	6E-6
Odds Ratio	1.08 [NR]

GWAS snp
PMID	[PMID 19430480 ]
Trait	Type 1 diabetes
Title	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.
Risk Allele	T
P-val	3E-27
Odds Ratio	NR

GWAS snp
PMID	[PMID 19430479 ]
Trait	Diastolic blood pressure
Title	Genome-wide association study of blood pressure and hypertension.
Risk Allele	T
P-val	3E-14
Odds Ratio	0.48 [0.36-0.60] mm Hg increase

GWAS snp
PMID	[PMID 19430479 ]
Trait	Systolic blood pressure
Title	Genome-wide association study of blood pressure and hypertension.
Risk Allele	T
P-val	5E-9
Odds Ratio	0.48 [0.38-0.78] mm Hg increase

GWAS snp
PMID	[PMID 19198610]
Trait	Eosinophil counts
Title	Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.
Risk Allele	T
P-val	7E-19 (European)
Odds Ratio	7.6 [5.9-9.3] % standard unit increase

[PMID 25009551 ] The ATXN2-SH2B3 locus is associated with peripheral arterial disease: an electronic medical record-based genome-wide association study

[PMID 23844121 ] Thrombotic Antiphospholipid Syndrome Shows Strong Haplotypic Association with SH2B3-ATXN2 Locus

[PMID 23328882] Meta-analyses of four eosinophil related gene variants in coronary heart disease.

[PMID 22525200] Pharmacogenetic implications for eight common blood pressure-associated single-nucleotide polymorphisms.

[PMID 22493691 ] Novel associations for hypothyroidism include known autoimmune risk Loci.

[PMID 22328738 ] Comprehensive assessment of rheumatoid arthritis susceptibility loci in a large psoriatic arthritis cohort.

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

[PMID 21253569 ] Genome-wide association study SNPs in the human genome diversity project populations: does selection affect unlinked SNPs with shared trait associations?

[PMID 21193429 ] Determinants of platelet count in humans.

[PMID 20560212 ] Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection

[PMID 20546165] The carriage of the type 1 diabetes-associated R262W variant of human LNK correlates with increased proliferation of peripheral blood monocytes in diabetic patients.

[PMID 20508602] The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis

[PMID 20045101 ] Quantitative trait loci for CD4:CD8 lymphocyte ratio are associated with risk of type 1 diabetes and HIV-1 immune control.

[PMID 19956433 ] Genetics of coronary artery disease: focus on genome-wide association studies.

[PMID 19951419 ] Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis

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

[PMID 19913121 ] Gene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.

[PMID 19862010 ] Multiple loci influence erythrocyte phenotypes in the CHARGE Consortium.

[PMID 19860791] Genetic evidence for a role of IL33 in nasal polyposis.

[PMID 19307593 ] Signals of recent positive selection in a worldwide sample of human populations.

[PMID 19168599 ] Type 1 diabetes in the BB rat: a polygenic disease.

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

[PMID 18987646 ] The expanding genetic overlap between multiple sclerosis and type I diabetes.

[PMID 18978792 ] Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci.

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

[PMID 18556337 ] Impact of diabetes susceptibility loci on progression from pre-diabetes to diabetes in at-risk individuals of the diabetes prevention trial-type 1 (DPT-1).

[PMID 18252225 ] On the use of general control samples for genome-wide association studies: genetic matching highlights causal variants.

OMIM	212750
Desc
Variant
Related	also

OMIM	612520
Desc	DIABETES MELLITUS, INSULIN-DEPENDENT, 20; IDDM20
Variant
Related	also

OMIM	222100
Desc	DIABETES MELLITUS, INSULIN-DEPENDENT; IDDM
Variant
Related	also

OMIM	612011
Desc	CELIAC DISEASE, SUSCEPTIBILITY TO, 13; CELIAC13
Variant
Related	also

GWAS snp
PMID	[PMID 24768677]
Trait	Autoimmune hepatitis type-1
Title	Genome-wide association study identifies variants associated with autoimmune hepatitis type 1.
Risk Allele
P-val	8E-8
Odds Ratio	1.40 [1.20-1.60]

GWAS snp
PMID	[PMID 24816252 ]
Trait	Blood metabolite levels
Title	An atlas of genetic influences on human blood metabolites.
Risk Allele	T
P-val	6E-18
Odds Ratio	.02 [0.011-0.019] unit increase

[PMID 26535636] Association between IL2/IL21 and SH2B3 polymorphisms and risk of celiac disease: a meta-analysis

[PMID 26553438 ] Recurrent Coding Sequence Variation Explains Only A Small Fraction of the Genetic Architecture of Colorectal Cancer

[PMID 29176593] Shared genetic etiology of hypertension and stroke: evidence from bioinformatics analysis of genome-wide association studies.

[PMID 32148083 ] White Blood Cells and Blood Pressure: A Mendelian Randomization Study.

[PMID 32928932] Genetic Colorectal Cancer and Adenoma Risk Variants are Associated with Increasing Adenoma Counts.