SNP Detail For rs7590268
1.Mapping Information
Human SNP ID rs7590268
Human chromosome chr2
Human SNP position 43312986
Pig chromosome chr3
Pig SNP position 103183224
2.Annotation Information
PubMed ID20023658
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20023658
StudyGenome-wide association study identifies two susceptibility loci for nonsyndromic cleft lip with or without cleft palate.
Disease/TraitOrofacial clefts
Initial sample399 European ancestry cases, 1,318 European ancestry controls
Replication sample655 European ancestry triads
Region2p21
Chromosome idchr2
Chromosome position43312986
Reported geneTHADA
Mapped geneTHADA
Upstream gene id
Downstream gene id
SNP gene ids63892
Upstream gene distance
Downstream gene distance
SNP risk allelers7590268-G
SNPsrs7590268
Merged0
SNP id current7590268
Contextintron_variant
Intergenic0
Allele frequency0.22
P value0.00000009
Pvalue mlog7.04575749056067
P value text
Or beta1.42
%95 Ci[1.26-1.59]
PlatformIllumina [521288]
CNVN
Mapped traitcleft lip
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003959
Study accessionGCST000547
PubMed ID22863734
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22863734
StudyGenome-wide meta-analyses of nonsyndromic cleft lip with or without cleft palate identify six new risk loci.
Disease/TraitOrofacial clefts
Initial sampleUp to 666 European ancestry trios, 399 European ancestry cases, 1,318 European ancestry controls
Replication sampleup to 795 East Asian ancestry trios
Region2p21
Chromosome idchr2
Chromosome position43312986
Reported geneTHADA
Mapped geneTHADA
Upstream gene id
Downstream gene id
SNP gene ids63892
Upstream gene distance
Downstream gene distance
SNP risk allelers7590268-G
SNPsrs7590268
Merged0
SNP id current7590268
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.00000001
Pvalue mlog8
P value text(Meta-All, NSCL/P)
Or beta1.415
%95 Ci[1.225-1.636]
PlatformNR [497084]
CNVN
Mapped traitprogranulin measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004625
Study accessionGCST001628