SNP Detail For rs11587400
1.Mapping Information
Human SNP ID rs11587400
Human chromosome chr1
Human SNP position 114537037
Pig chromosome chr7
Pig SNP position 65568559
2.Annotation Information
PubMed ID24189344
JournalMol Psychiatry
Linkwww.ncbi.nlm.nih.gov/pubmed/24189344
StudyCommon genetic variants on 1p13.2 associate with risk of autism.
Disease/TraitAutism
Initial sample275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls
Replication sample1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios
Region1p13.2
Chromosome idchr1;1
Chromosome position114556471;114537037
Reported geneTRIM33, BCAS2
Mapped geneLOC105378913 - BCAS2; PKMP1
Upstream gene id
Downstream gene id
SNP gene ids
Upstream gene distance
Downstream gene distance
SNP risk allelers1877455-T; rs11587400-C
SNPsrs1877455; rs11587400
Merged0
SNP id current
Contextintergenic_variant; non_coding_transcript_exon_variant
Intergenic
Allele frequency0.449
P value0.00000007
Pvalue mlog7.15490195998574
P value text
Or beta
%95 Ci
PlatformIllumina [702234] (imputed)
CNVN
Mapped traitautism
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003758
Study accessionGCST002268
PubMed ID24189344
JournalMol Psychiatry
Linkwww.ncbi.nlm.nih.gov/pubmed/24189344
StudyCommon genetic variants on 1p13.2 associate with risk of autism.
Disease/TraitAutism
Initial sample275 Chinese ancestry cases and 550 Chinese ancestry controls from 275 trios, 136 Chinese ancestry cases, 984 Chinese ancestry controls
Replication sample1,299 European ancestry cases and 2,598 European ancestry controls from 1,299 trios
Region1p13.2
Chromosome idchr1;1;1
Chromosome position114531255;114556471;114537037
Reported geneBCAS2, TRIM33
Mapped geneTRIM33 - PKMP1; LOC105378913 - BCAS2; PKMP1
Upstream gene id
Downstream gene id
SNP gene ids
Upstream gene distance
Downstream gene distance
SNP risk allelers10858047-T; rs1877455-T; rs11587400-C
SNPsrs10858047; rs1877455; rs11587400
Merged0
SNP id current
Contextupstream_gene_variant; intergenic_variant; non_coding_transcript_exon_variant
Intergenic
Allele frequency0.444
P value0.00000008
Pvalue mlog7.09691001300805
P value text
Or beta
%95 Ci
PlatformIllumina [702234] (imputed)
CNVN
Mapped traitautism
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003758
Study accessionGCST002268