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rs1893217

From SNPedia

Orientationminus
Stabilizedminus
Make rs1893217(C;C)
Make rs1893217(C;T)
Make rs1893217(T;T)
ReferenceGRCh38 38.1/141
Chromosome18
Position12809341
GenePTPN2
is asnp
is mentioned by
dbSNPrs1893217
ebirs1893217
HLIrs1893217
Exacrs1893217
Varsomers1893217
Maprs1893217
PheGenIrs1893217
hapmaprs1893217
1000 genomesrs1893217
hgdprs1893217
ensemblrs1893217
gopubmedrs1893217
geneviewrs1893217
scholarrs1893217
googlers1893217
pharmgkbrs1893217
gwascentralrs1893217
openSNPrs1893217
23andMers1893217
23andMe allrs1893217
SNP Nexus

SNPshotrs1893217
SNPdbers1893217
MSV3drs1893217
GWAS Ctlgrs1893217
GMAF0.118
Max Magnitude
? (C;C) (C;T) (T;T) 28

linked to Crohn's disease and type-1 diabetes

GWAS snp
PMID [PMID 19430480OA-icon.png]
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 4E-15
Odds Ratio NR NR


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


[PMID 20222910] Susceptibility loci reported in genome-wide association studies are associated with Crohn's disease in Canadian children

GWAS snp
PMID [PMID 20190752OA-icon.png]
Trait Celiac disease
Title Multiple common variants for celiac disease influencing immune gene expression
Risk Allele G
P-val 3E-10
Odds Ratio 1.17 [1.12-1.23]

[PMID 21179116OA-icon.png] An autoimmune-associated variant in PTPN2 reveals an impairment of IL-2R signaling in CD4(+) T cells

GWAS snp
PMID [PMID 21383967OA-icon.png]
Trait
Title Meta-Analysis of Genome-Wide Association Studies in Celiac Disease and Rheumatoid Arthritis Identifies Fourteen Non-HLA Shared Loci
Risk Allele G
P-val 5E-12
Odds Ratio None None

[PMID 17554260OA-icon.png] Robust associations of four new chromosome regions from genome-wide analyses of type 1 diabetes.

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

[PMID 18556337OA-icon.png] 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 18987646OA-icon.png] The expanding genetic overlap between multiple sclerosis and type I diabetes.

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

[PMID 20722033OA-icon.png] The susceptibility loci juvenile idiopathic arthritis shares with other autoimmune diseases extend to PTPN2, COG6, and ANGPT1.

[PMID 22021207] Crohn's disease-associated polymorphism within the PTPN2 gene affects muramyl-dipeptide-induced cytokine secretion and autophagy.


GET Evidence
rs1893217
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.078125
summary



GWAS snp
PMID [PMID 23128233OA-icon.png]
Trait Inflammatory bowel disease
Title Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease.
Risk Allele G
P-val 3E-26
Odds Ratio 1.17 [1.127-1.216]
GWAS snp
PMID [PMID 21102463OA-icon.png]
Trait Crohn's disease
Title Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.
Risk Allele G
P-val 1E-14
Odds Ratio 1.25 [1.18-1.32]


[PMID 24127071] Associations between PTPN2 polymorphisms and susceptibility to ulcerative colitis and Crohn's disease: a meta-analysis


[PMID 23518806] Association between the PTPN2 gene and Crohn's disease: dissection of potential causal variants


[PMID 24480412] PTPN2 rs1893217 single-nucleotide polymorphism is associated with risk of Behçet's disease in a Chinese Han population


[PMID 22960018OA-icon.png] Investigation of the vitamin D receptor gene (VDR) and its interaction with protein tyrosine phosphatase, non-receptor type 2 gene (PTPN2) on risk of islet autoimmunity and type 1 diabetes: the Diabetes Autoimmunity Study in the Young (DAISY).


[PMID 26928573] The Clinical Relevance of the IBD-Associated Variation within the Risk Gene Locus Encoding Protein Tyrosine Phosphatase Non-Receptor Type 2 in Patients of the Swiss IBD Cohort.