SNP Detail For rs13041247
1.Mapping Information
Human SNP ID rs13041247
Human chromosome chr20
Human SNP position 40640434
Pig chromosome chr17
Pig SNP position 48654500
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
Region20q12
Chromosome idchr20
Chromosome position40640434
Reported geneNR
Mapped geneLOC102724968 - LOC105372620
Upstream gene id102724968
Downstream gene id105372620
SNP gene ids
Upstream gene distance21249
Downstream gene distance36798
SNP risk allelers13041247-T
SNPsrs13041247
Merged0
SNP id current13041247
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.000000006
Pvalue mlog8.22184874961635
P value text(Meta-All, NSCL/P)
Or beta1.19
%95 Ci[1.06-1.35]
PlatformNR [497084]
CNVN
Mapped traitprogranulin measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004625
Study accessionGCST001628
PubMed ID25775280
JournalNat Commun
Linkwww.ncbi.nlm.nih.gov/pubmed/25775280
StudyGenome-wide association study identifies a new susceptibility locus for cleft lip with or without a cleft palate.
Disease/TraitNonsyndromic cleft lip with or without cleft palate
Initial sample858 Chinese ancestry cases, 1,248 Chinese ancestry controls
Replication sample1,663 Chinese ancestry cases, 1,874 Chinese ancestry controls
Region20q12
Chromosome idchr20
Chromosome position40640434
Reported geneMAFB
Mapped geneLOC102724968 - LOC105372620
Upstream gene id102724968
Downstream gene id105372620
SNP gene ids
Upstream gene distance21249
Downstream gene distance36798
SNP risk allelers13041247-T
SNPsrs13041247
Merged0
SNP id current13041247
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.00000000002
Pvalue mlog10.698970004336
P value text
Or beta1.32
%95 Ci[1.20-1.41]
PlatformAffymetrix [842556]
CNVN
Mapped traitcleft palate, cleft lip
Mapped trait URIhttp://purl.obolibrary.org/obo/HP_0000175, http://www.ebi.ac.uk/efo/EFO_0003959
Study accessionGCST002811