SNP Detail For rs1038304
1.Mapping Information
Human SNP ID rs1038304
Human chromosome chr6
Human SNP position 151612040
Pig chromosome chr1
Pig SNP position 17079368
2.Annotation Information
PubMed ID18445777
JournalN Engl J Med
Linkwww.ncbi.nlm.nih.gov/pubmed/18445777
StudyMultiple genetic loci for bone mineral density and fractures.
Disease/TraitBone mineral density (hip)
Initial sample5,861 European ancestry individuals
Replication sample7,925 European ancestry individuals
Region6q25.1
Chromosome idchr6
Chromosome position151612040
Reported geneESR1
Mapped geneCCDC170
Upstream gene id
Downstream gene id
SNP gene ids80129
Upstream gene distance
Downstream gene distance
SNP risk allelers1038304-G
SNPsrs1038304
Merged0
SNP id current1038304
Contextintron_variant
Intergenic0
Allele frequency0.47
P value0.000000005
Pvalue mlog8.30102999566398
P value text
Or beta0.08
%95 Ci[0.06-0.11] s.d. decrease
PlatformIllumina [301019]
CNVN
Mapped traitbone density
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003923
Study accessionGCST000181
PubMed ID18445777
JournalN Engl J Med
Linkwww.ncbi.nlm.nih.gov/pubmed/18445777
StudyMultiple genetic loci for bone mineral density and fractures.
Disease/TraitBone mineral density (spine)
Initial sample5,861 European ancestry individuals
Replication sample7,925 European ancestry individuals
Region6q25.1
Chromosome idchr6
Chromosome position151612040
Reported geneESR1, C6orf97
Mapped geneCCDC170
Upstream gene id
Downstream gene id
SNP gene ids80129
Upstream gene distance
Downstream gene distance
SNP risk allelers1038304-G
SNPsrs1038304
Merged0
SNP id current1038304
Contextintron_variant
Intergenic0
Allele frequency0.47
P value0.00000000004
Pvalue mlog10.397940008672
P value text
Or beta0.1
%95 Ci[0.07-0.13] s.d. decrease
PlatformIllumina [301019]
CNVN
Mapped traitbone density
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003923
Study accessionGCST000180
PubMed ID19079262
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19079262
StudyNew sequence variants associated with bone mineral density.
Disease/TraitBone mineral density (hip)
Initial sample6,865 European ancestry individuals
Replication sample8,510 European ancestry individuals
Region6q25.1
Chromosome idchr6
Chromosome position151612040
Reported geneESR1
Mapped geneCCDC170
Upstream gene id
Downstream gene id
SNP gene ids80129
Upstream gene distance
Downstream gene distance
SNP risk allelers1038304-G
SNPsrs1038304
Merged0
SNP id current1038304
Contextintron_variant
Intergenic0
Allele frequency0.47
P value0.0000000004
Pvalue mlog9.39794000867203
P value text
Or beta0.08
%95 Ci[0.06-0.11] s.d. decrease
PlatformIllumina [305051]
CNVN
Mapped traitbone density
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003923
Study accessionGCST000297