SNP Detail For rs4680
1.Mapping Information
Human SNP ID rs4680
Human chromosome chr22
Human SNP position 19963748
Pig chromosome chr14
Pig SNP position 55036173
2.Annotation Information
PubMed ID24816252
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24816252
StudyAn atlas of genetic influences on human blood metabolites.
Disease/TraitBlood metabolite levels
Initial sample7,824 European ancestry individuals
Replication sampleNA
Region22q11.21
Chromosome idchr22
Chromosome position19963748
Reported geneCOMT
Mapped geneCOMT
Upstream gene id
Downstream gene id
SNP gene ids1312
Upstream gene distance
Downstream gene distance
SNP risk allelers4680-A
SNPsrs4680
Merged0
SNP id current4680
Contextmissense_variant
Intergenic0
Allele frequency0.51
P value5E-178
Pvalue mlog177.301029995663
P value text(X-11593--O-methylascorbate)
Or beta0.049
%95 Ci[0.045-0.053] unit decrease
PlatformAffymetrix, Illumina [2100000] (imputed)
CNVN
Mapped traitblood metabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005664
Study accessionGCST002443
PubMed ID24816252
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24816252
StudyAn atlas of genetic influences on human blood metabolites.
Disease/TraitBlood metabolite levels
Initial sample7,824 European ancestry individuals
Replication sampleNA
Region22q11.21
Chromosome idchr22
Chromosome position19963748
Reported geneCOMT
Mapped geneCOMT
Upstream gene id
Downstream gene id
SNP gene ids1312
Upstream gene distance
Downstream gene distance
SNP risk allelers4680-A
SNPsrs4680
Merged0
SNP id current4680
Contextmissense_variant
Intergenic0
Allele frequency0.51
P value0.0000000000001
Pvalue mlog13
P value text(X-01911)
Or beta0.044
%95 Ci[0.032-0.056] unit decrease
PlatformAffymetrix, Illumina [2100000] (imputed)
CNVN
Mapped traitblood metabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005664
Study accessionGCST002443