From SNPedia
| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
normal
|
| (C;T)
|
|
increased risk for celiac disease
|
| (T;T)
|
3
|
increased risk for celiac disease
|
| ? | (C;C) (C;T) (T;T) | 28 |
|---|
 |
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
spittoon coronary artery disease and heart attack
SNP Risk Version Effect
spittoon blood pressure
| GWAS snp
|
| PMID
|
[PMID 19198610]
|
| Trait
|
Plasma eosinophil count
|
| Title
|
Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction
|
| Risk Allele
|
T
|
| P-val
|
7E-19
|
| Odds Ratio
|
7.60 [5.9-9.3] % standard unit increase
|
| 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
|
|
| P-val
|
3E-27
|
| Odds Ratio
|
NR NR
|
| 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 |
[PMID 19693089] Four novel coeliac disease regions replicated in an association study of a Swedish-Norwegian family cohort
| PharmGKB | PA164739962 |
| Name | |
| Annotation | GWAS results: Sequence variants affecting eosinophil numbers associate with asthma and myocardial infarction. (Initial Sample Size: 9,392 individuals; Replication Sample Size: 12,118 individuals); (Region: 12q24.12; Reported Gene(s): SH2B3; Risk Allele: rs3184504-T); (p-value= 7E-19).This variant is associated with Plasma eosinophil count. |
| Gene | SH2B3 |
| Featue | |
| Evidence | PubMed ID:19198610; Web Resource:http://www.genome.gov/gwastudies/ |
| Drugs | |
| Diseases | |
| Curation Level | Non-Curated |
[PMID 19951419] Confirmation of the genetic association of CTLA4 and PTPN22 with ANCA-associated vasculitis
[PMID 20508602] The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis
| GWAS snp
|
| PMID
|
[PMID 20453842]
|
| Trait
|
Rheumatoid arthritis
|
| Title
|
Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk lock
|
| Risk Allele
|
T
|
| P-val
|
0.000006
|
| Odds Ratio
|
1.08 [NR]
|
[PMID 20560212] Evolutionary and functional analysis of celiac risk loci reveals SH2B3 as a protective factor against bacterial infection
| PharmGKB | PA163522161 |
| Name | SH2B3: 784T>C, W262R |
| Annotation | The nonsynonymous SNP at 12q24, in SH2B3 gene, was significantly associated (P = 8.6 x 10(-8)) with myocardial infarction in six different populations (6,650 cases and 40,621 controls). |
| Gene | SH2B3 |
| Featue | |
| Evidence | PubMed ID:19198610 |
| Drugs | |
| Diseases | Myocardial Infarction |
| Curation Level | Curated |
| GWAS snp
|
| PMID
|
[PMID 21378990]
|
| Trait
|
|
| 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 21909115]
|
| Trait
|
|
| 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
|
|
| 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]
|
[PMID 22493691] Novel associations for hypothyroidism include known autoimmune risk Loci.
[PMID 22087237] Improving the estimation of celiac disease sibling risk by non-HLA genes
