openSNP | rs3184504

Links to SNPedia

Title	Summary
rs3184504 T/T	Increased risk for celiac disease
rs3184504 C/C	Normal
rs3184504 C/T	Increased risk for celiac disease

Note: For some SNPs, testing providers detect the genotype from the opposite strand of DNA, so that the genotypes listed on openSNP don't appear here. In those cases, please replace "A" by "T" or "G" by "C" (and vice-versa).

Publications on this SNP on the Public Library of Science:

First Author	Title	Year of Publication	# of readers
Amanda M. Casto	Genome-Wide Association Study SNPs in the Human Genome Diversity Project Populations: Does Selection Affect Unlinked SNPs with Shared Trait Associations?	2011	14257
Guillaume Paré	Genome-Wide Association Analysis of Soluble ICAM-1 Concentration Reveals Novel Associations at the NFKBIK, PNPLA3, RELA, and SH2B3 Loci	2011	6096
Rudolf S. N. Fehrmann	Trans-eQTLs Reveal That Independent Genetic Variants Associated with a Complex Phenotype Converge on Intermediate Genes, with a Major Role for the HLA	2011	17584
Vincent Plagnol	Genome-Wide Association Analysis of Autoantibody Positivity in Type 1 Diabetes Cases	2011	10702
Maria F. Hughes	Genetic Markers Enhance Coronary Risk Prediction in Men: The MORGAM Prospective Cohorts	2012	4151
Joong-Ho Won	SNPs and Other Features as They Predispose to Complex Disease: Genome-Wide Predictive Analysis of a Quantitative Phenotype for Hypertension	2011	3485
Stephanie Saade	Large Scale Association Analysis Identifies Three Susceptibility Loci for Coronary Artery Disease	2011	6377
Marco Medici	Identification of Novel Genetic Loci Associated with Thyroid Peroxidase Antibodies and Clinical Thyroid Disease	2014	11655
Chris Cotsapas	Pervasive Sharing of Genetic Effects in Autoimmune Disease	2011	21388
Marie Louise Max Andersen	Complex Multi-Block Analysis Identifies New Immunologic and Genetic Disease Progression Patterns Associated with the Residual β-Cell Function 1 Year after Diagnosis of Type 1 Diabetes	2013	2989
Maxime Rotival	Integrating Genome-Wide Genetic Variations and Monocyte Expression Data Reveals Trans-Regulated Gene Modules in Humans	2011	13450
Erin N. Smith	Longitudinal Genome-Wide Association of Cardiovascular Disease Risk Factors in the Bogalusa Heart Study	2010	8629
Pallav Bhatnagar	Genome-Wide Meta-Analysis of Systolic Blood Pressure in Children with Sickle Cell Disease	2013	3048
Aaron Sams	Patterns of Population Differentiation and Natural Selection on the Celiac Disease Background Risk Network	2013	5234
Eguzkine Ochoa	Thrombotic Antiphospholipid Syndrome Shows Strong Haplotypic Association with SH2B3-ATXN2 Locus	2013	2544
Valentina Izzo	Improving the Estimation of Celiac Disease Sibling Risk by Non-HLA Genes	2011	8345
Joanna E. Cobb	Identification of the Tyrosine-Protein Phosphatase Non-Receptor Type 2 as a Rheumatoid Arthritis Susceptibility Locus in Europeans	2013	1771
Suna Lahut	ATXN2 and Its Neighbouring Gene SH2B3 Are Associated with Increased ALS Risk in the Turkish Population	2012	2859
Nicholas Eriksson	Novel Associations for Hypothyroidism Include Known Autoimmune Risk Loci	2012	12512
Jonathan P. Bradfield	A Genome-Wide Meta-Analysis of Six Type 1 Diabetes Cohorts Identifies Multiple Associated Loci	2011	15942
M. Kamran Ikram	Four Novel Loci (19q13, 6q24, 12q24, and 5q14) Influence the Microcirculation In Vivo	2010	11205
Deborah S. Cunninghame Graham	Association of NCF2, IKZF1, IRF8, IFIH1, and TYK2 with Systemic Lupus Erythematosus	2011	9757
Nora Franceschini	Prospective Associations of Coronary Heart Disease Loci in African Americans Using the MetaboChip: The PAGE Study	2014	2945
Alexander P. Reiner	Genome-Wide Association Study of White Blood Cell Count in 16,388 African Americans: the Continental Origins and Genetic Epidemiology Network (COGENT)	2011	13415
Jennifer L. Bolton	Improvement in Prediction of Coronary Heart Disease Risk over Conventional Risk Factors Using SNPs Identified in Genome-Wide Association Studies	2013	3540
Tianxiao Huan	A Meta-analysis of Gene Expression Signatures of Blood Pressure and Hypertension	2015	10598
Kristen Fortney	Genome-Wide Scan Informed by Age-Related Disease Identifies Loci for Exceptional Human Longevity	2015	24433
Yan Borné	Total and Differential Leukocyte Counts in Relation to Incidence of Diabetes Mellitus: A Prospective Population-Based Cohort Study	2016	3001
Abbas Dehghan	Genome-Wide Association Study for Incident Myocardial Infarction and Coronary Heart Disease in Prospective Cohort Studies: The CHARGE Consortium	2016	6723
Yan Chen	The Polymorphisms in LNK Gene Correlated to the Clinical Type of Myeloproliferative Neoplasms	2016	2147
Anna Parkkola	HLA and non-HLA genes and familial predisposition to autoimmune diseases in families with a child affected by type 1 diabetes	2017	1115
Xiang Jiao	Recurrent, low-frequency coding variants contributing to colorectal cancer in the Swedish population	2018	269
Nora Franceschini	Variant Discovery and Fine Mapping of Genetic Loci Associated with Blood Pressure Traits in Hispanics and African Americans	2016	1570
Morten Krogh Christiansen	Coronary artery disease-associated genetic variants and biomarkers of inflammation	2017	1864
Paul S. de Vries	Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study	2017	3393

Publications on this SNP on Mendeley

First Author	Title	Pub. Year	# of Readers	DOI
KA Hunt	Newly identified genetic risk variants for celiac disease related to the immune response	2008	1	10.1038/ng.102
K A Hunt	Newly identified genetic risk variants for celiac disease related to the immune response	2008	1	10.1038/ng.102
K A Hunt	Newly identified genetic risk variants for celiac disease related to the immune response	2008	1
K A Hunt	Newly identified genetic risk variants for celiac disease related to the immune response	2008	9	ng.102 [pii]\r10.1038/ng.102
Maria Pia Sperandeo	Improving the Estimation of Celiac Disease Sibling Risk by Non-HLA Genes	2011	13	10.1371/journal.pone.0026920
Karen A Hunt	Newly identified genetic risk variants for celiac disease related to the immune response.	2008	26	10.1038/ng.102
Guillaume Paré	Genome-Wide Association Analysis of Soluble ICAM-1 Concentration Reveals Novel Associations at the NFKBIK, PNPLA3, RELA, and SH2B3 Loci	2011	17	10.1371/journal.pgen.1001374
K A Hunt	Newly identified genetic risk variants for celiac disease related to the immune response.	2008	4	10.1038/ng.102
K.A. Hunt	Newly identified genetic risk variants for celiac disease related to the immune response	2008	1	10.1038/ng.102
Alexandra Zhernakova	Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection.	2010	24	10.1016/j.ajhg.2010.05.004
A G Nikitin	Association of the polymorphisms of the ERBB3 and SH2B3 genes with type 1 diabetes	2010	3	-
K A Hunt	Newly identified genetic risk variants for celiac disease related to the immune response	2008	3	Doi 10.1038/Ng.102
A Alcina	The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis.	2010	10	10.1038/gene.2010.30
Alexandra Zhernakova	Newly identified genetic risk variants for celiac disease related to the immune response	2008	1	10.1038/ng.102
Karen A Hunt	Newly identified genetic risk variants for celiac disease related to the immune response.	2008	64	10.1038/ng.102
Alexandra Zhernakova	Evolutionary and Functional Analysis of Celiac Risk Loci Reveals SH2B3 as a Protective Factor against Bacterial Infection	2010	32	10.1016/j.ajhg.2010.05.004
Edward J Carr	Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis.	2009	11
Elena Y Lavrikova	The carriage of the type 1 diabetes-associated R262W variant of human LNK correlates with increased proliferation of peripheral blood monocytes in diabetic patients.	2011	1	10.1111/j.1399-5448.2010.00656.x
B.F. Shen	Absence of SH2B3 mutation in nonobese diabetic mice	2012	1	10.4238/2012.May.9.6
K A Hunt	Newly identified genetic risk variants for celiac disease related to the immune response	2008	9	ng.102 [pii]\r10.1038/ng.102
Adrienne Tin	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	2013	3	10.1007/s00439-013-1274-7
A Alcina	The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis.	2010	8	-
Karen A Hunt	Newly identified genetic risk variants for celiac disease related to the immune response.	2008	76	-
S S Amundsen	Four novel coeliac disease regions replicated in an association study of a Swedish-Norwegian family cohort.	2010	9	10.1038/gene.2009.67
I D Buysschaert	Genetic evidence for a role of IL33 in nasal polyposis.	2010	4	10.1111/j.1398-9995.2009.02227.x
K A Hunt	Newly identified genetic risk variants for celiac disease related to the immune response	2008	2	10.1038/ng.102
K A Hunt	Newly identified genetic risk variants for celiac disease related to the immune response	2008	2	-
Karen A Hunt	Newly identified genetic risk variants for celiac disease related to the immune response.	2008	3	10.1038/ng.102
Elena Y Lavrikova	The carriage of the type 1 diabetes-associated R262W variant of human LNK correlates with increased proliferation of peripheral blood monocytes in diabetic patients.	2011	3	10.1111/j.1399-5448.2010.00656.x
Joyce Y. Tung	Novel Associations for Hypothyroidism Include Known Autoimmune Risk Loci	2012	19	10.1371/journal.pone.0034442
Daniel F Gudbjartsson	Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.	2009	52	-
Daniel F Gudbjartsson	Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.	2009	67	10.1038/ng.323
Jiangfang Lian	Meta-analyses of four eosinophil related gene variants in coronary heart disease.	2013	1	10.1007/s11239-012-0862-z
Lian J.	Meta-analyses of four eosinophil related gene variants in coronary heart disease	2013	1	-
Adrienne Tin	Genome-wide association study identified the human leukocyte antigen region as a novel locus for plasma beta-2 microglobulin.	2013	2	10.1007/s00439-013-1274-7

Evidence compiled by the Personal Genome Project

There are no results from the Personal Genome Project yet. Please come back later.

Publications listed by Genome.gov

First Author	Title	Journal	Publication Date	Trait	p-value	Confidence Interval
Gudbjartsson DF	Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction.	Nat Genet	02/08/2009	Eosinophil counts	7.0e-19 (European)	[5.9-9.3] % standard unit increase
Plagnol V	Genome-wide association analysis of autoantibody positivity in type 1 diabetes cases.	PLoS Genet	08/04/2011	Type 1 diabetes autoantibodies	2.0e-38 (T1D)	[NR]
Barrett JC	Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes.	Nat Genet	05/10/2009	Type 1 diabetes	3.0e-27	NR
Eriksson N	Novel associations for hypothyroidism include known autoimmune risk loci.	PLoS One	04/06/2012	Hypothyroidism	3.0e-12	[1.14-1.27]
Levy D	Genome-wide association study of blood pressure and hypertension.	Nat Genet	05/10/2009	Systolic blood pressure	5.0e-09	[0.38-0.78] mm Hg increase
Ehret GB	Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk.	Nature	09/11/2011	Diastolic blood pressure	4.0e-25	[NR] mmHg increase

Name	rs3184504
Chromosome	12
Position	111446804
Weight of evidence	132

SNP rs3184504

Basic Information

Genotype Frequency

Allele Frequency

Additional Information

Links to SNPedia

Publications on this SNP on the Public Library of Science:

Publications on this SNP on Mendeley

Evidence compiled by the Personal Genome Project

Publications listed by Genome.gov

Users who share this SNP:

Genome Browser

Contacts