SNP Detail For rs12543318
1.Mapping Information
Human SNP ID rs12543318
Human chromosome chr8
Human SNP position 87856112
Pig chromosome chr4
Pig SNP position 53785491
2.Annotation Information
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
Region8q21.3
Chromosome idchr8
Chromosome position87856112
Reported geneNR
Mapped geneLOC105375626 - DCAF4L2
Upstream gene id105375626
Downstream gene id138009
SNP gene ids
Upstream gene distance187673
Downstream gene distance14631
SNP risk allelers12543318-C
SNPsrs12543318
Merged0
SNP id current12543318
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.00000002
Pvalue mlog7.69897000433601
P value text(Meta-All, NSCL/P)
Or beta1.272
%95 Ci[1.106-1.463]
PlatformNR [497084]
CNVN
Mapped traitprogranulin measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004625
Study accessionGCST001628