SNP Detail For rs802734
1.Mapping Information
Human SNP ID rs802734
Human chromosome chr6
Human SNP position 127957653
Pig chromosome chr1
Pig SNP position 38988378
2.Annotation Information
PubMed ID20190752
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20190752
StudyMultiple common variants for celiac disease influencing immune gene expression.
Disease/TraitCeliac disease
Initial sample4,533 European ancestry cases, 10,750 European ancestry controls
Replication sample4,918 European ancestry cases, 5,684 European ancestry controls
Region6q22.33
Chromosome idchr6
Chromosome position127957653
Reported geneTHEMIS, PTPRK
Mapped geneTHEMIS - PTPRK
Upstream gene id387357
Downstream gene id5796
SNP gene ids
Upstream gene distance39022
Downstream gene distance11126
SNP risk allelers802734-G
SNPsrs802734
Merged0
SNP id current802734
Contextintergenic_variant
Intergenic1
Allele frequency0.31
P value0.00000000000003
Pvalue mlog13.5228787452803
P value text
Or beta1.17
%95 Ci[1.12-1.22]
PlatformIllumina [292387]
CNVN
Mapped traitceliac disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001060
Study accessionGCST000612
PubMed ID21833088
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/21833088
StudyGenetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis.
Disease/TraitMultiple sclerosis
Initial sample9,772 European ancestry cases, 16,849 European ancestry controls
Replication sample4,218 European ancestry cases, 7,296 European ancestry controls
Region6q22.33
Chromosome idchr6
Chromosome position127957653
Reported geneTHEMIS, PTPRK
Mapped geneTHEMIS - PTPRK
Upstream gene id387357
Downstream gene id5796
SNP gene ids
Upstream gene distance39022
Downstream gene distance11126
SNP risk allelers802734-A
SNPsrs802734
Merged0
SNP id current802734
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.000000006
Pvalue mlog8.22184874961635
P value text
Or beta1.1
%95 Ci[1.09-1.12]
PlatformIllumina [465434]
CNVN
Mapped traitmultiple sclerosis
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003885
Study accessionGCST001198