SNP Detail For rs7741021
1.Mapping Information
Human SNP ID rs7741021
Human chromosome chr6
Human SNP position 127147129
Pig chromosome chr1
Pig SNP position 39755696
2.Annotation Information
PubMed ID24430505
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24430505
StudyGenetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.
Disease/TraitBone properties (heel)
Initial sample4,556 European ancestry individuals
Replication sample2,236 European ancestry individuals
Region6q22.33
Chromosome idchr6
Chromosome position127147129
Reported geneRSPO3
Mapped geneRSPO3, LOC105377988
Upstream gene id
Downstream gene id
SNP gene ids84870, 105377988
Upstream gene distance
Downstream gene distance
SNP risk allelers7741021-?
SNPsrs7741021
Merged0
SNP id current7741021
Contextintron_variant
Intergenic0
Allele frequency
P value0.00000004
Pvalue mlog7.39794000867203
P value text(BMD-DXA)
Or beta
%95 Ci
PlatformAffymetrix, Illumina [up to 2399195] (imputed)
CNVN
Mapped traitbone density
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003923
Study accessionGCST002334
PubMed ID24430505
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24430505
StudyGenetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.
Disease/TraitBone properties (heel)
Initial sample730 East Asian ancestry individuals, 2,380 European ancestry individuals, 11,150 individuals
Replication sample11,058 European ancestry individuals, 2,870 European and other ancestry individuals, 21,439 individuals
Region6q22.33
Chromosome idchr6
Chromosome position127147129
Reported geneRSPO3
Mapped geneRSPO3, LOC105377988
Upstream gene id
Downstream gene id
SNP gene ids84870, 105377988
Upstream gene distance
Downstream gene distance
SNP risk allelers7741021-C
SNPsrs7741021
Merged0
SNP id current7741021
Contextintron_variant
Intergenic0
Allele frequency0.47
P value9E-21
Pvalue mlog20.0457574905606
P value text(BUA)
Or beta0.06
%95 Ci[0.05-0.07] unit increase
PlatformAffymetrix, Illumina [up to 2609590] (imputed)
CNVN
Mapped traitbone quantitative ultrasound measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004514
Study accessionGCST002335
PubMed ID24430505
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24430505
StudyGenetic determinants of heel bone properties: genome-wide association meta-analysis and replication in the GEFOS/GENOMOS consortium.
Disease/TraitBone properties (heel)
Initial sample2,483 East Asian ancestry individuals, 1,885 European ancestry individuals, 11,146 individuals
Replication sample10,074 European ancestry individuals, 2,870 European and other ancestry individuals, 21,434 individuals
Region6q22.33
Chromosome idchr6
Chromosome position127147129
Reported geneRSPO3
Mapped geneRSPO3, LOC105377988
Upstream gene id
Downstream gene id
SNP gene ids84870, 105377988
Upstream gene distance
Downstream gene distance
SNP risk allelers7741021-C
SNPsrs7741021
Merged0
SNP id current7741021
Contextintron_variant
Intergenic0
Allele frequency0.47
P value1E-19
Pvalue mlog19
P value text(VOS)
Or beta0.06
%95 Ci[0.05-0.08] unit increase
PlatformAffymetrix, Illumina [up to 2609590] (imputed)
CNVN
Mapped traitvelocity of sound measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005654
Study accessionGCST002333