SNP Detail For rs10863790
1.Mapping Information
Human SNP ID rs10863790
Human chromosome chr1
Human SNP position 209814702
Pig chromosome chr9
Pig SNP position 146231705
2.Annotation Information
PubMed ID20436469
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20436469
StudyA genome-wide association study of cleft lip with and without cleft palate identifies risk variants near MAFB and ABCA4.
Disease/TraitCleft lip
Initial sample825 European ancestry trios, 1,038 Asian ancestry trios
Replication sample2,194 Asian ancestry family members, 322 South Asian ancestry family members, 3,830 European ancestry family members, 1,769 South and Central American ancestry family members
Region1q32.2
Chromosome idchr1
Chromosome position209814702
Reported geneIRF6
Mapped geneIRF6 - DIEXF
Upstream gene id3664
Downstream gene id27042
SNP gene ids
Upstream gene distance8527
Downstream gene distance13265
SNP risk allelers10863790-?
SNPsrs10863790
Merged0
SNP id current10863790
Contextintergenic_variant
Intergenic1
Allele frequency0.8
P value0.00000000000001
Pvalue mlog14
P value text
Or beta1.72
%95 Ci[1.49-1.98]
PlatformIllumina [589945]
CNVN
Mapped traitcleft lip
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003959
Study accessionGCST000673