SNP Detail For rs3791675
1.Mapping Information
Human SNP ID rs3791675
Human chromosome chr2
Human SNP position 55884174
Pig chromosome chr3
Pig SNP position 90176613
2.Annotation Information
PubMed ID19396169
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19396169
StudyA large-scale genome-wide association study of Asian populations uncovers genetic factors influencing eight quantitative traits.
Disease/TraitHeight
Initial sample8,842 Korean ancestry individuals
Replication sample7,861 Korean ancestry individuals
Region2p16.1
Chromosome idchr2
Chromosome position55884174
Reported geneEFEMP1
Mapped geneEFEMP1
Upstream gene id
Downstream gene id
SNP gene ids2202
Upstream gene distance
Downstream gene distance
SNP risk allelers3791675-G
SNPsrs3791675
Merged0
SNP id current3791675
Contextintron_variant
Intergenic0
Allele frequency0.22
P value0.000000002
Pvalue mlog8.69897000433601
P value text
Or beta0.42
%95 Ci[0.28-0.56] cm increase
PlatformAffymetrix [2156535] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST000380
PubMed ID19893584
JournalJ Hum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19893584
StudyIdentification of 15 loci influencing height in a Korean population.
Disease/TraitHeight
Initial sample8,842 Korean ancestry individuals
Replication sampleNA
Region2p16.1
Chromosome idchr2
Chromosome position55884174
Reported geneEFEMP1
Mapped geneEFEMP1
Upstream gene id
Downstream gene id
SNP gene ids2202
Upstream gene distance
Downstream gene distance
SNP risk allelers3791675-G
SNPsrs3791675
Merged0
SNP id current3791675
Contextintron_variant
Intergenic0
Allele frequency0.23
P value0.000004
Pvalue mlog5.39794000867203
P value text
Or beta0.45
%95 Ci[NR] cm increase
PlatformAffymetrix [334546]
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST000522
PubMed ID20397748
JournalTwin Res Hum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20397748
StudyGenome-wide association study of height and body mass index in Australian twin families.
Disease/TraitHeight
Initial sample11,536 European ancestry individuals
Replication sampleNA
Region2p16.1
Chromosome idchr2
Chromosome position55884174
Reported geneEFEMP1
Mapped geneEFEMP1
Upstream gene id
Downstream gene id
SNP gene ids2202
Upstream gene distance
Downstream gene distance
SNP risk allelers3791675-C
SNPsrs3791675
Merged0
SNP id current3791675
Contextintron_variant
Intergenic0
Allele frequency0.77
P value0.0000003
Pvalue mlog6.52287874528033
P value text
Or beta0.09
%95 Ci[0.04-0.14] SD increase
PlatformIllumina [559712] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST000644
PubMed ID20881960
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/20881960
StudyHundreds of variants clustered in genomic loci and biological pathways affect human height.
Disease/TraitHeight
Initial sample133,653 European ancestry individuals
Replication sample50,074 European ancestry individuals
Region2p16.1
Chromosome idchr2
Chromosome position55884174
Reported geneEFEMP1
Mapped geneEFEMP1
Upstream gene id
Downstream gene id
SNP gene ids2202
Upstream gene distance
Downstream gene distance
SNP risk allelers3791675-T
SNPsrs3791675
Merged0
SNP id current3791675
Contextintron_variant
Intergenic0
Allele frequency0.23
P value3E-35
Pvalue mlog34.5228787452803
P value text
Or beta0.053
%95 Ci[NR] unit decrease
PlatformAffymetrix, Illumina [2834208] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST000817
PubMed ID18391952
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/18391952
StudyGenome-wide association analysis identifies 20 loci that influence adult height.
Disease/TraitHeight
Initial sample13,665 European ancestry individuals
Replication sample16,482 European ancestry individuals
Region2p16.1
Chromosome idchr2
Chromosome position55884174
Reported geneEFEMP1
Mapped geneEFEMP1
Upstream gene id
Downstream gene id
SNP gene ids2202
Upstream gene distance
Downstream gene distance
SNP risk allelers3791675-C
SNPsrs3791675
Merged0
SNP id current3791675
Contextintron_variant
Intergenic0
Allele frequency0.77
P value0.000000000002
Pvalue mlog11.698970004336
P value text
Or beta0.09
%95 Ci[0.05-0.12] s.d. increase (males)
PlatformAffymetrix [402951]
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST000174
PubMed ID25429064
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25429064
StudyMeta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.
Disease/TraitHeight
Initial sample36,227 East Asian ancestry individuals
Replication sample57,699 East Asian ancestry individuals
Region2p16.1
Chromosome idchr2
Chromosome position55884174
Reported geneEFEMP1
Mapped geneEFEMP1
Upstream gene id
Downstream gene id
SNP gene ids2202
Upstream gene distance
Downstream gene distance
SNP risk allelers3791675-T
SNPsrs3791675
Merged0
SNP id current3791675
Contextintron_variant
Intergenic0
Allele frequency0.77
P value1E-38
Pvalue mlog38
P value text
Or beta0.065
%95 Ci[0.051-0.079] unit decrease
PlatformAffymetrix, Illumina [2704730] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST002702