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rs10758669

From SNPedia

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Make rs10758669(A;A)
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Make rs10758669(C;C)
ReferenceGRCh37.p2 37.2/134
Chromosome9
Position4981602
is asnp
is mentioned by
dbSNPrs10758669
ebirs10758669
HLIrs10758669
Exacrs10758669
Varsomers10758669
Maprs10758669
PheGenIrs10758669
hapmaprs10758669
1000 genomesrs10758669
hgdprs10758669
ensemblrs10758669
gopubmedrs10758669
geneviewrs10758669
scholarrs10758669
googlers10758669
pharmgkbrs10758669
gwascentralrs10758669
openSNPrs10758669
23andMers10758669
23andMe allrs10758669
SNP Nexus

SNPshotrs10758669
SNPdbers10758669
MSV3drs10758669
GWAS Ctlgrs10758669
GMAF0.3085
Max Magnitude
? (A;A) (A;C) (C;C) 28
GWAS snp
PMID [PMID 18587394OA-icon.png]
Trait Crohn's disease
Title Genome-wide assocation defines more than 30 distinct susceptibility loci for Crohn's disease
Risk Allele C
P-val 3E-9
Odds Ratio 1.12 [NR]


[PMID 20109474] Genetic factors in chronic inflammation: single nucleotide polymorphisms in the STAT-JAK pathway, susceptibility to DNA damage and Crohn's disease in a New Zealand population

GWAS snp
PMID [PMID 20228799OA-icon.png]
Trait Ulcerative colitis
Title Genome-wide association identifies multiple ulcerative colitis susceptibility loci
Risk Allele C
P-val 0.000001
Odds Ratio 1.22 [NR]
GWAS snp
PMID [PMID 21297633OA-icon.png]
Trait
Title Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
Risk Allele C
P-val 2E-25
Odds Ratio 1.1700 [1.12-1.21]


[PMID 22205606] JAK2 and STAT3 polymorphisms in a Han Chinese Population with Behcet's disease


[PMID 22269120] Investigation of JAK2, STAT3 and CCR6 polymorphisms and their gene-gene interactions in inflammatory bowel disease


[PMID 18006699] Host genetic variation contributes to phenotypic diversity in myeloproliferative disorders.


[PMID 19068216OA-icon.png] Investigation of Crohn's disease risk loci in ulcerative colitis further defines their molecular relationship.


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


[PMID 22065112] The JAK2 variant rs10758669 in Crohn's disease: altering the intestinal barrier as one mechanism of action.


[PMID 21102463OA-icon.png] Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci.


GET Evidence
rs10758669
aa_change
aa_change_short
impact pathogenic
qualified_impact Insufficiently evaluated pathogenic
overall_frequency 0.664062
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 C
P-val 8E-45
Odds Ratio 1.17 [1.139-1.209]


[PMID 23611997] JAK1, but not JAK2 and STAT3, confers susceptibility to Vogt-Koyanagi-Harada (VKH) syndrome in a Han Chinese population


[PMID 24385239] JAK2 rs10758669 Polymorphisms and Susceptibility to Ulcerative Colitis and Crohn's Disease: A Meta-analysis