SNP Detail For rs7980687
1.Mapping Information
Human SNP ID rs7980687
Human chromosome chr12
Human SNP position 123338164
Pig chromosome chr14
Pig SNP position 31269849
2.Annotation Information
PubMed ID22504419
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22504419
StudyCommon variants at 12q15 and 12q24 are associated with infant head circumference.
Disease/TraitHead circumference (infant)
Initial sample10,768 European ancestry infants
Replication sample8,321 European ancestry infants
Region12q24.31
Chromosome idchr12
Chromosome position123338164
Reported geneSBNO1
Mapped geneSBNO1
Upstream gene id
Downstream gene id
SNP gene ids55206
Upstream gene distance
Downstream gene distance
SNP risk allelers7980687-A
SNPsrs7980687
Merged0
SNP id current7980687
Contextintron_variant
Intergenic0
Allele frequency0.2
P value0.000000008
Pvalue mlog8.09691001300805
P value text
Or beta0.074
%95 Ci[0.049-0.099] SD increase
PlatformAffymetrix, Illumina [~ 2400000] (imputed)
CNVN
Mapped traitinfant head circumference
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004577
Study accessionGCST001484
PubMed ID25201988
JournalProc Natl Acad Sci U S A
Linkwww.ncbi.nlm.nih.gov/pubmed/25201988
StudyCommon genetic variants associated with cognitive performance identified using the proxy-phenotype method.
Disease/TraitEducational attainment
Initial sample106,736 European ancestry individuals
Replication sampleNA
Region12q24.31
Chromosome idchr12
Chromosome position123338164
Reported geneSBNO1, SETD8, RILPL2, C12orf65, MPHOSPH9, SNRNP35, RILPL1, PITPNM2, TMED2
Mapped geneSBNO1
Upstream gene id
Downstream gene id
SNP gene ids55206
Upstream gene distance
Downstream gene distance
SNP risk allelers7980687-A
SNPsrs7980687
Merged0
SNP id current7980687
Contextintron_variant
Intergenic0
Allele frequency0.2
P value0.00000007
Pvalue mlog7.15490195998574
P value text
Or beta0.029
%95 Ci[NR] unit increase
PlatformAffymetrix, Illumina [NR] (imputed)
CNVN
Mapped traitself reported educational attainment
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004784
Study accessionGCST002598
PubMed ID25282103
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25282103
StudyDefining the role of common variation in the genomic and biological architecture of adult human height.
Disease/TraitHeight
Initial sample253,288 European ancestry individuals
Replication sample80,067 European ancestry individuals
Region12q24.31
Chromosome idchr12
Chromosome position123338164
Reported geneSBNO1
Mapped geneSBNO1
Upstream gene id
Downstream gene id
SNP gene ids55206
Upstream gene distance
Downstream gene distance
SNP risk allelers7980687-A
SNPsrs7980687
Merged0
SNP id current7980687
Contextintron_variant
Intergenic0
Allele frequency0.205
P value1E-26
Pvalue mlog26
P value text
Or beta0.039
%95 Ci[0.031-0.047] unit increase
PlatformAffymetrix, Illumina, Perlegen [2550858] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST002647