SNP Detail For rs174601
1.Mapping Information
Human SNP ID rs174601
Human chromosome chr11
Human SNP position 61855668
Pig chromosome chr2
Pig SNP position 9142390
2.Annotation Information
PubMed ID22001757
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22001757
StudyGenome-wide association study identifies loci influencing concentrations of liver enzymes in plasma.
Disease/TraitLiver enzyme levels (alkaline phosphatase)
Initial sampleUp to 52,350 European ancestry individuals, up to 8,739 Indian Asian ancestry individuals
Replication sampleNA
Region11q12.2
Chromosome idchr11
Chromosome position61855668
Reported geneFADS1, FADS2, C11orf10
Mapped geneFADS2
Upstream gene id
Downstream gene id
SNP gene ids9415
Upstream gene distance
Downstream gene distance
SNP risk allelers174601-T
SNPsrs174601
Merged0
SNP id current174601
Contextnon_coding_transcript_exon_variant
Intergenic0
Allele frequency0.35
P value0.000000003
Pvalue mlog8.52287874528033
P value text
Or beta1.7
%95 Ci[0.80-2.60] % increase
PlatformAffymetrix, Illumina, Perlegen [~ 2600000] (imputed)
CNVN
Mapped traitalkaline phosphatase measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004533
Study accessionGCST001276
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
Region11q12.2
Chromosome idchr11
Chromosome position61855668
Reported geneFADS1
Mapped geneFADS2
Upstream gene id
Downstream gene id
SNP gene ids9415
Upstream gene distance
Downstream gene distance
SNP risk allelers174601-T
SNPsrs174601
Merged0
SNP id current174601
Contextnon_coding_transcript_exon_variant
Intergenic0
Allele frequency0.34
P value0.0000000000000008
Pvalue mlog15.096910013008
P value text(stearidonate (18:4n3))
Or beta0.034
%95 Ci[0.026-0.042] unit decrease
PlatformAffymetrix, Illumina [2100000] (imputed)
CNVN
Mapped traitblood metabolite measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005664
Study accessionGCST002443
PubMed ID25646338
JournalAm J Clin Nutr
Linkwww.ncbi.nlm.nih.gov/pubmed/25646338
StudyGenetic loci associated with circulating phospholipid trans fatty acids: a meta-analysis of genome-wide association studies from the CHARGE Consortium.
Disease/TraitTrans fatty acid levels
Initial sample8,013 European ancestry individuals
Replication sample1,082 African American individuals, 669 Chinese ancestry individuals, 657 Hispanic individuals
Region11q12.2
Chromosome idchr11
Chromosome position61855668
Reported geneNR
Mapped geneFADS2
Upstream gene id
Downstream gene id
SNP gene ids9415
Upstream gene distance
Downstream gene distance
SNP risk allelers174601-T
SNPsrs174601
Merged0
SNP id current174601
Contextnon_coding_transcript_exon_variant
Intergenic0
Allele frequency0.3731
P value0.0000000000003
Pvalue mlog12.5228787452803
P value text(Cis/trans-18:2, EA)
Or beta0.0034
%95 Ci[0.0024-0.0044] unit increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitcis/trans-18:2 fatty acid measurement, trans fatty acid measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006824, http://www.ebi.ac.uk/efo/EFO_0006821
Study accessionGCST002721
PubMed ID25500335
JournalProstaglandins Leukot Essent Fatty Acids
Linkwww.ncbi.nlm.nih.gov/pubmed/25500335
StudyA genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study.
Disease/TraitRed blood cell fatty acid levels
Initial sample2,633 individuals
Replication sampleNA
Region11q12.2
Chromosome idchr11
Chromosome position61855668
Reported geneC11orf9, C11orf10, FEN1, FADS1, FADS2, RAB3IL1, DAGLA, BEST1
Mapped geneFADS2
Upstream gene id
Downstream gene id
SNP gene ids9415
Upstream gene distance
Downstream gene distance
SNP risk allelers174601-?
SNPsrs174601
Merged0
SNP id current174601
Contextnon_coding_transcript_exon_variant
Intergenic0
Allele frequency0.35
P value3E-305
Pvalue mlog304.52287874528
P value text(DGLA)
Or beta0.591
%95 Ci[NR] unit increase
PlatformAffymetrix [~ 2500000] (imputed)
CNVN
Mapped traitfatty acid measurement, linolenic acid measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005110, http://www.ebi.ac.uk/efo/EFO_0006811
Study accessionGCST002712