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rs2395185

From SNPedia

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Geno Mag Summary
(G;G) 2 1.33x increased risk of Ulcerative Colitis, but much lower Type 1 Diabetes risk.
(G;T) 2 2.72x higher risk of Type 1 Diabetes, but 0.88x lower risk of Ulcerative Colitis.
(T;T) 3 9.49x risk of Type 1 Diabetes, but 0.58x lower risk of Ulcerative Colitis.
ReferenceGRCh38 38.1/141
Chromosome6
Position32465390
is asnp
is mentioned by
dbSNPrs2395185
ebirs2395185
HLIrs2395185
Exacrs2395185
Varsomers2395185
Maprs2395185
PheGenIrs2395185
hapmaprs2395185
1000 genomesrs2395185
hgdprs2395185
ensemblrs2395185
gopubmedrs2395185
geneviewrs2395185
scholarrs2395185
googlers2395185
pharmgkbrs2395185
gwascentralrs2395185
openSNPrs2395185
23andMers2395185
23andMe allrs2395185
SNP Nexus

SNPshotrs2395185
SNPdbers2395185
MSV3drs2395185
GWAS Ctlgrs2395185
GMAF0.292
Max Magnitude3
? (G;G) (G;T) (T;T) 28
A genome-wide association study using DNA samples from 1,052 individuals with ulcerative colitis and preexisting data from 2,571 controls, all of European ancestry, concluded that this SNP and several others were associated with altered risk for the disease.[PMID 19122664OA-icon.png]


[PMID 19837788OA-icon.png] Capture of type 1 diabetes-susceptible HLA DR-DQ haplotypes in Japanese subjects using a tag single nucleotide polymorphism


GWAS snp
PMID [PMID 19915573]
Trait Ulcerative colitis
Title A genome-wide association study identifies three new susceptibility loci for ulcerative colitis in the Japanese population
Risk Allele G
P-val 5E-22
Odds Ratio 1.92 [1.68-2.19]
OMIM604519
Desc
Variant
Relatedalso
[PMID 22286212OA-icon.png] Genome-Wide Association Study of Classical Hodgkin Lymphoma and Epstein-Barr Virus Status-Defined Subgroups


[PMID 19128478OA-icon.png] Complex nature of SNP genotype effects on gene expression in primary human leucocytes.


[PMID 20017995OA-icon.png] A principal-components-based clustering method to identify multiple variants associated with rheumatoid arthritis and arthritis-related autoantibodies.


[PMID 20018015OA-icon.png] Elastic-net regularization approaches for genome-wide association studies of rheumatoid arthritis.


[PMID 20018024OA-icon.png] On the association between rheumatoid arthritis and classical HLA class I and class II alleles predicted from single-nucleotide polymorphism data.


[PMID 20018025OA-icon.png] Genome-wide analysis of haplotype interaction for the data from the North American Rheumatoid Arthritis Consortium.


[PMID 20018075OA-icon.png] Genome-wide association study of rheumatoid arthritis by a score test based on wavelet transformation.


[PMID 20369022OA-icon.png] Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations.


[PMID 21304891OA-icon.png] A study of CNVs as trait-associated polymorphisms and as expression quantitative trait loci.


[PMID 21304977OA-icon.png] An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians.


[PMID 22383892OA-icon.png] Coexpression network analysis in abdominal and gluteal adipose tissue reveals regulatory genetic loci for metabolic syndrome and related phenotypes.


GET Evidence
rs2395185
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.276786
summary



GWAS snp
PMID [PMID 23143601OA-icon.png]
Trait Lung cancer
Title Genome-wide association analysis identifies new lung cancer susceptibility loci in never-smoking women in Asia.
Risk Allele T
P-val 1E-8
Odds Ratio 1.17 [1.11-1.23]


[PMID 22694930OA-icon.png] Genome-wide association studies of asthma indicate opposite immunopathogenesis direction from autoimmune diseases.


[PMID 24707947] Genetic markers in a multi-ethnic sample for childhood acute lymphoblastic leukemia risk