SNP Detail For rs3748816
1.Mapping Information
Human SNP ID rs3748816
Human chromosome chr1
Human SNP position 2595307
Pig chromosome chr6
Pig SNP position 58851473
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
Region1p36.32
Chromosome idchr1
Chromosome position2595307
Reported geneMMEL1, TNFRSF14
Mapped geneMMEL1
Upstream gene id
Downstream gene id
SNP gene ids79258
Upstream gene distance
Downstream gene distance
SNP risk allelers3748816-?
SNPsrs3748816
Merged0
SNP id current3748816
Contextmissense_variant
Intergenic0
Allele frequency0.66
P value0.000000003
Pvalue mlog8.52287874528033
P value text
Or beta1.12
%95 Ci[1.09-1.18]
PlatformIllumina [292387]
CNVN
Mapped traitceliac disease
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0001060
Study accessionGCST000612