SNP Detail For rs2080401
1.Mapping Information
Human SNP ID rs2080401
Human chromosome chr2
Human SNP position 170684313
Pig chromosome chr15
Pig SNP position 86260414
2.Annotation Information
PubMed ID21347282
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21347282
StudyGenome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.
Disease/TraitLDL cholesterol
Initial sample7,565 African American individuals
Replication sample3,789 African American and Afro-Caribbean individuals
Region2q31.1
Chromosome idchr2
Chromosome position170684313
Reported geneintergenic
Mapped geneLOC100130256 - LOC101926913
Upstream gene id100130256
Downstream gene id101926913
SNP gene ids
Upstream gene distance1254
Downstream gene distance16055
SNP risk allelers2080401-A
SNPsrs2080401
Merged0
SNP id current2080401
Contextintron_variant
Intergenic1
Allele frequency0.62
P value0.000007
Pvalue mlog5.15490195998574
P value text
Or beta0.0723
%95 Ci[0.041-0.104] unit decrease
PlatformAffymetrix [~ 2740000] (imputed)
CNVN
Mapped traitlow density lipoprotein cholesterol measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004611
Study accessionGCST000975
PubMed ID26105758
JournalNat Commun
Linkwww.ncbi.nlm.nih.gov/pubmed/26105758
StudyA genome-wide association study identifies multiple loci for variation in human ear morphology.
Disease/TraitLobe size
Initial sample4,919 Latin American individuals
Replication sampleNA
Region2q31.1
Chromosome idchr2
Chromosome position170684313
Reported geneSP5
Mapped geneLOC100130256 - LOC101926913
Upstream gene id100130256
Downstream gene id101926913
SNP gene ids
Upstream gene distance1254
Downstream gene distance16055
SNP risk allelers2080401-C
SNPsrs2080401
Merged0
SNP id current2080401
Contextintron_variant
Intergenic1
Allele frequency0.6
P value0.0000000001
Pvalue mlog10
P value text
Or beta0.096
%95 Ciunit decrease
PlatformIllumina [671038]
CNVN
Mapped traitlobe size
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0007666
Study accessionGCST002999
PubMed ID26105758
JournalNat Commun
Linkwww.ncbi.nlm.nih.gov/pubmed/26105758
StudyA genome-wide association study identifies multiple loci for variation in human ear morphology.
Disease/TraitLobe attachment
Initial sample4,919 Latin American individuals
Replication sampleNA
Region2q31.1
Chromosome idchr2
Chromosome position170684313
Reported geneSP5
Mapped geneLOC100130256 - LOC101926913
Upstream gene id100130256
Downstream gene id101926913
SNP gene ids
Upstream gene distance1254
Downstream gene distance16055
SNP risk allelers2080401-C
SNPsrs2080401
Merged0
SNP id current2080401
Contextintron_variant
Intergenic1
Allele frequency0.6
P value0.000000000009
Pvalue mlog11.0457574905606
P value text
Or beta0.071
%95 Ciunit decrease
PlatformIllumina [671038]
CNVN
Mapped traitlobe attachment
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0007667
Study accessionGCST002998
PubMed ID26105758
JournalNat Commun
Linkwww.ncbi.nlm.nih.gov/pubmed/26105758
StudyA genome-wide association study identifies multiple loci for variation in human ear morphology.
Disease/TraitEar morphology
Initial sample4,919 Latin American individuals
Replication sampleNA
Region2q31.1
Chromosome idchr2
Chromosome position170684313
Reported geneSP5
Mapped geneLOC100130256 - LOC101926913
Upstream gene id100130256
Downstream gene id101926913
SNP gene ids
Upstream gene distance1254
Downstream gene distance16055
SNP risk allelers2080401-C
SNPsrs2080401
Merged0
SNP id current2080401
Contextintron_variant
Intergenic1
Allele frequency0.6
P value0.00000003
Pvalue mlog7.52287874528033
P value text
Or beta
%95 Ci
PlatformIllumina [671038]
CNVN
Mapped traitouter ear morphology trait
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0007664
Study accessionGCST003001