| Geno
|
Mag
|
Summary
|
| (A;A)
|
0
|
common in complete genomics
|
| ? | (A;A) (A;G) (G;G) | 28 |
|---|
 |
| GWAS
|
| SNP
|
rs17810546
|
| PubMedID
|
[PMID 18311140]
|
| Condition
|
Celiac disease
|
| Gene
|
IL12A, SCHIP1
|
| Risk Allele
|
G
|
| pValue
|
1.00E-009
|
| OR
|
1.35
|
| 95% CI
|
1.23-1.49
|
| OMIM | 612008 |
| Desc | CELIAC DISEASE, SUSCEPTIBILITY TO, 10; CELIAC10 |
| Variant | |
| Related | also |
| GWAS snp
|
| PMID
|
[PMID 20190752]
|
| Trait
|
Celiac disease
|
| Title
|
Multiple common variants for celiac disease influencing immune gene expression
|
| Risk Allele
|
G
|
| P-val
|
4E-28
|
| Odds Ratio
|
1.36 [1.29-1.44]
|
[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.
[PMID 19458352] Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants.
[PMID 19468064] Parasites represent a major selective force for interleukin genes and shape the genetic predisposition to autoimmune conditions.
[PMID 20647273] Investigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis.
| GET Evidence
|
| rs17810546
|
| aa_change
|
|
| aa_change_short
|
|
| impact
|
pathogenic
|
| qualified_impact
|
Insufficiently evaluated pathogenic
|
| overall_frequency
|
0.0234375
|
| summary
|
|
| GWAS snp
|
| PMID
|
[PMID 23291587]
|
| Trait
|
Behcet's disease
|
| Title
|
Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1.
|
| Risk Allele
|
A
|
| P-val
|
6E-7
|
| Odds Ratio
|
1.55 [1.30-1.85]
|
