SNP Detail For rs3739070
1.Mapping Information
Human SNP ID rs3739070
Human chromosome chr2
Human SNP position 238397627
Pig chromosome chr15
Pig SNP position 152359332
2.Annotation Information
PubMed ID21835309
JournalAm J Hum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21835309
StudyGWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.
Disease/TraitIris characteristics
Initial sample2,121 European ancestry individuals
Replication sample499 European ancestry adolescent twins and siblings, 73 European ancestry adult individuals
Region2q37.3
Chromosome idchr2
Chromosome position238397627
Reported geneTRAF3IP1
Mapped geneTRAF3IP1
Upstream gene id
Downstream gene id
SNP gene ids26146
Upstream gene distance
Downstream gene distance
SNP risk allelers3739070-A
SNPsrs3739070
Merged0
SNP id current3739070
Contextmissense_variant
Intergenic0
Allele frequency
P value0.000006
Pvalue mlog5.22184874961635
P value text(Crypts)
Or beta0.16
%95 Ci[0.10-0.22] unit decrease
PlatformIllumina [274604] (imputed)
CNVN
Mapped traiteye measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004731
Study accessionGCST001199
PubMed ID21835309
JournalAm J Hum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21835309
StudyGWAS findings for human iris patterns: associations with variants in genes that influence normal neuronal pattern development.
Disease/TraitIris characteristics
Initial sample2,121 European ancestry individuals
Replication sample499 European ancestry adolescent twins and siblings, 73 European ancestry adult individuals
Region2q37.3
Chromosome idchr2
Chromosome position238397627
Reported geneTRAF3IP1
Mapped geneTRAF3IP1
Upstream gene id
Downstream gene id
SNP gene ids26146
Upstream gene distance
Downstream gene distance
SNP risk allelers3739070-A
SNPsrs3739070
Merged0
SNP id current3739070
Contextmissense_variant
Intergenic0
Allele frequency
P value0.000000000002
Pvalue mlog11.698970004336
P value text(Furrows)
Or beta0.25
%95 Ci[0.19-0.31] unit increase
PlatformIllumina [274604] (imputed)
CNVN
Mapped traiteye measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004731
Study accessionGCST001199