rs3184504

Chromosome : 12 , Position: 111446804
Most conditions are affected by anywhere from hundreds to millions of genetic variants (SNPs). A single SNP usually has a minor contribution to a person’s overall genetic risk for a certain condition. That is why you shouldn't consider or act on a SNP in isolation. Instead, we use SNPs to determine polygenic risk scores (PRSs), which are the basis of most health reports.
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Reference AlleleT
Alternative Alleles:  C

Traits

Trait Variant Impact PMID Author (year)
Basal metabolic rate C
Unknown journal UKB Neale v2 (2018)
Eosinophil counts [EA] C
Nat Genet Gudbjartsson DF (2009)
Left ventricular end-diastolic volume C
Nat Genet Tadros R (2021)
Systolic blood pressure [EA, initial] C
Hypertension Wain LV (2017)
Systolic blood pressure C
Nat Genet Levy D (2009)
Diastolic blood pressure [EA] C
Nat Genet Kato N (2015)
Diastolic blood pressure [EA, initial] C
Hypertension Wain LV (2017)
Diastolic blood pressure C
Nat Genet Ehret GB (2016)
Type 1 diabetes C
Unknown journal Crouch D (2021)
Celiac disease C
Unknown journal UKB SAIGE (2018)
Medication use (thyroid preparations) C
Nat Commun Wu Y (2019)
Haematocrit percentage C
Unknown journal UKB Neale v2 (2018)
Whole body fat-free mass C
Unknown journal UKB Neale v2 (2018)
Plateletcrit C
Cell Vuckovic D (2020)
IgA levels [Recessive] C
Nat Genet Jonsson S (2017)
White blood cell (leukocyte) count C
Unknown journal UKB Neale v2 (2018)
Eosinophil counts C
Cell Vuckovic D (2020)
Platelet count C
Cell Chen MH (2020)
Whole body water mass C
Unknown journal UKB Neale v2 (2018)
Standing height C
Unknown journal UKB Neale v2 (2018)
Lymphocyte counts C
Cell Vuckovic D (2020)
Eosinophil percentage of white cells C
Cell Vuckovic D (2020)
Trunk fat-free mass C
Unknown journal UKB Neale v2 (2018)
Trunk predicted mass C
Unknown journal UKB Neale v2 (2018)
C-C motif chemokine 3 levels C
Nat Metab Folkersen L (2020)
Hemoglobin C
Cell Vuckovic D (2020)
White blood cell count C
Cell Chen MH (2020)
Eosinophill count C
Unknown journal UKB Neale v2 (2018)
Hemoglobin concentration C
Cell Astle WJ (2016)
Hematocrit C
Cell Vuckovic D (2020)
Glaucoma (multi-trait analysis) C
Nat Genet Craig JE (2020)
Hemoglobin levels C
Commun Biol Oskarsson GR (2020)
Reticulocyte fraction of red cells C
Cell Vuckovic D (2020)
Haemoglobin concentration C
Unknown journal UKB Neale v2 (2018)
High light scatter reticulocyte percentage of red cells C
Cell Vuckovic D (2020)
Medication use (calcium channel blockers) C
Nat Commun Wu Y (2019)
Red blood cell traits [EA, Hgb] C
Nature van der Harst P (2012)
Lymphocyte count C
Unknown journal UKB Neale v2 (2018)
Red blood cell count C
Cell Astle WJ (2016)
Monocyte count C
Cell Chen MH (2020)
Neutrophill count C
Unknown journal UKB Neale v2 (2018)
Myeloid white cell count C
Cell Astle WJ (2016)
Total cholesterol levels [EA] C
Nat Genet Hoffmann TJ (2018)
Granulocyte count C
Cell Astle WJ (2016)
Low density lipoprotein cholesterol levels [EA] C
Nat Genet Hoffmann TJ (2018)
Total cholesterol levels C
Nat Genet Hoffmann TJ (2018)
Sum neutrophil eosinophil counts C
Cell Astle WJ (2016)
Offspring birth weight C
Hum Mol Genet Beaumont RN (2018)
Immature fraction of reticulocytes C
Cell Vuckovic D (2020)
Cholesterol, total C
Nat Genet Willer CJ (2013)
Low density lipoprotein cholesterol levels C
Nat Genet Hoffmann TJ (2018)
Tumor necrosis factor levels C
EBioMedicine Yuan S (2020)
Reticulocyte percentage C
Unknown journal UKB Neale v2 (2018)
Basophil count C
Cell Chen MH (2020)
HDL cholesterol levels C
PLoS Med Richardson TG (2020)
Sum basophil neutrophil counts C
Cell Astle WJ (2016)
High density lipoprotein cholesterol levels [EA] C
Nat Genet Hoffmann TJ (2018)
High density lipoprotein cholesterol levels C
Nat Genet Hoffmann TJ (2018)
Birth weight C
Nat Genet Warrington NM (2019)
Leg fat-free mass (right) C
Unknown journal UKB Neale v2 (2018)
Beta-2 microglubulin plasma levels C
Hum Genet Tin A (2013)
Leg predicted mass (right) C
Unknown journal UKB Neale v2 (2018)
Leg predicted mass (left) C
Unknown journal UKB Neale v2 (2018)
Appendicular lean mass C
Commun Biol Pei YF (2020)
Apolipoprotein A1 levels C
PLoS Med Richardson TG (2020)
Parental longevity (father's attained age) C
Aging (Albany NY) Pilling LC (2017)
Blood metabolite levels [kynurenine] C
Nat Genet Shin SY (2014)
Red blood cell (erythrocyte) count C
Unknown journal UKB Neale v2 (2018)
Basophill count C
Unknown journal UKB Neale v2 (2018)
Body mass index C
Nat Genet Turcot V (2017)
Glomerular filtration rate (cystatin C) C
Nat Commun Pattaro C (2016)
Arm fat-free mass (left) C
Unknown journal UKB Neale v2 (2018)
High light scatter reticulocyte percentage C
Unknown journal UKB Neale v2 (2018)
Arm predicted mass (left) C
Unknown journal UKB Neale v2 (2018)
Arm fat-free mass (right) C
Unknown journal UKB Neale v2 (2018)
Arm predicted mass (right) C
Unknown journal UKB Neale v2 (2018)
Urate levels C
Elife Sinnott-Armstrong N (2021)
Platelet crit C
Unknown journal UKB Neale v2 (2018)
Liver enzyme levels (alanine transaminase) C
Nat Commun Pazoki R (2021)
Immature reticulocyte fraction C
Unknown journal UKB Neale v2 (2018)
Reticulocyte count C
Unknown journal UKB Neale v2 (2018)
High light scatter reticulocyte count C
Unknown journal UKB Neale v2 (2018)
"Hypothyroidism, drug reimbursement" C
Unknown journal FINNGEN_R5 (2021)
"Type 1 diabetes, wide definition" C
Unknown journal FINNGEN_R5 (2021)
"Type 1 diabetes, wide definition, subgroup 1" C
Unknown journal FINNGEN_R5 (2021)
Acute upper respiratory infections C
Unknown journal FINNGEN_R5 (2021)
Alanine aminotransferase levels C
Nat Commun Ward LD (2021)
Aspartate aminotransferase levels C
Nat Commun Ward LD (2021)
Autoimmune diseases C
Unknown journal FINNGEN_R5 (2021)
Autoimmune thyroid disease C
Nature Saevarsdottir S (2020)
Blood pressure medication | medication for cholesterol, blood pressure or diabetes C
Unknown journal UKB Neale v2 (2018)
Cardiovascular disease C
Am J Hum Genet Kichaev G (2018)
Chronic inflammatory diseases (ankylosing spondylitis, Crohn's disease, psoriasis, primary sclerosing cholangitis, ulcerative colitis) (pleiotropy) [subset analysis] C
Nat Genet Ellinghaus D (2016)
Colorectal cancer C
Nat Commun Schumacher FR (2015)
Colorectal cancer [EA] C
J Natl Cancer Inst Schmit SL (2018)
Colorectal or endometrial cancer [same direction] C
Sci Rep Cheng TH (2015)
Coronary artery disease C
Nat Genet Nikpay M (2015)
Crohn's disease [EA] C
Nat Genet Liu JZ (2015)
Diastolic blood pressure (cigarette smoking interaction) C
Am J Hum Genet Sung YJ (2018)
Endometrial cancer C
Nat Commun O'Mara TA (2018)
Endometrial cancer (endometrioid histology) C
Nat Commun O'Mara TA (2018)
Essential hypertension C
Unknown journal UKB SAIGE (2018)
Fibrinogen levels C
PLoS One de Vries PS (2017)
Height C
Am J Hum Genet Kichaev G (2018)
High blood pressure | illnesses of siblings C
Unknown journal UKB Neale v2 (2018)
High blood pressure | vascular/heart problems diagnosed by doctor C
Unknown journal UKB Neale v2 (2018)
Hypertension C
Unknown journal UKB SAIGE (2018)
Hypothyroidism C
PLoS One Eriksson N (2012)
Hypothyroidism nos C
Unknown journal UKB SAIGE (2018)
Hypothyroidism/myxoedema | non-cancer illness code, self-reported C
Unknown journal UKB Neale v2 (2018)
Inflammatory bowel disease [EA] C
Nat Genet Liu JZ (2015)
Intestinal malabsorption (non-celiac) C
Unknown journal UKB SAIGE (2018)
Ischemic stroke C
Nat Genet Malik R (2018)
Latent autoimmune diabetes vs. type 2 diabetes C
Diabetes Care Cousminer DL (2018)
Levothyroxine sodium | treatment/medication code C
Unknown journal UKB Neale v2 (2018)
Multiple sclerosis C
Science International Multiple Sclerosis Genetics Consortium (2019)
Neutrophil count C
Cell Chen MH (2020)
None of the above | vascular/heart problems diagnosed by doctor C
Unknown journal UKB Neale v2 (2018)
Primary sclerosing cholangitis C
Nat Genet Liu JZ (2013)
Stroke C
Nat Genet Malik R (2018)
Systolic blood pressure (cigarette smoking interaction) C
Am J Hum Genet Sung YJ (2018)
Thyroxine product | treatment/medication code C
Unknown journal UKB Neale v2 (2018)
Tonsillectomy C
Nat Commun Tian C (2017)
Type 1 diabetes with ophthalmic complications C
Unknown journal FINNGEN_R5 (2021)
Type 1 diabetes with other specified/multiple/unspecified complications C
Unknown journal FINNGEN_R5 (2021)
Type 1 diabetes without complications C
Unknown journal FINNGEN_R5 (2021)

Summary

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.[type-1 diabetes

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


[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.






[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

More Information

T = increased risk for celiac disease.

In a study of non-HLA SNP associations of 1600 celiac disease patients, this SNP was considered one of the most significant (OR =1.19,  p=1.33x10e-7) [R].

Individuals with the T allele should be cautious about gluten.

Population Alleles Frequency

ethhicity frequency
African/African-American 0.9174
Latino/Admixed American 0.7459
Ashkenazi Jewish 0.3507
East Asian 0.9994
European 0.5226
Other (population not assigned) 0.6241

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