SNP Detail For rs10748128
1.Mapping Information
Human SNP ID rs10748128
Human chromosome chr12
Human SNP position 69433878
Pig chromosome chr5
Pig SNP position 36288811
2.Annotation Information
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
Region12q15
Chromosome idchr12
Chromosome position69433878
Reported geneFRS2
Mapped geneLOC105369822
Upstream gene id
Downstream gene id
SNP gene ids105369822
Upstream gene distance
Downstream gene distance
SNP risk allelers10748128-T
SNPsrs10748128
Merged0
SNP id current10748128
Contextintergenic_variant
Intergenic0
Allele frequency0.35
P value2E-20
Pvalue mlog19.698970004336
P value text
Or beta0.038
%95 Ci[NR] unit increase
PlatformAffymetrix, Illumina [2834208] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST000817
PubMed ID23563607
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23563607
StudyGenome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture.
Disease/TraitHeight
Initial sample8,097 European ancestry tall individuals, 8,099 European ancestry short individuals
Replication sample4,872 European ancestry tall individuals, 4,831 European ancestry short individuals
Region12q15
Chromosome idchr12
Chromosome position69433878
Reported geneFRS2
Mapped geneLOC105369822
Upstream gene id
Downstream gene id
SNP gene ids105369822
Upstream gene distance
Downstream gene distance
SNP risk allelers10748128-T
SNPsrs10748128
Merged0
SNP id current10748128
Contextintergenic_variant
Intergenic0
Allele frequency0.35
P value0.000000000000007
Pvalue mlog14.1549019599857
P value text
Or beta1.19
%95 Ci[NR]
PlatformAffymetrix, Illumina [~ 2800000] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST001956
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
Region12q15
Chromosome idchr12
Chromosome position69433878
Reported geneFRS2
Mapped geneLOC105369822
Upstream gene id
Downstream gene id
SNP gene ids105369822
Upstream gene distance
Downstream gene distance
SNP risk allelers10748128-T
SNPsrs10748128
Merged0
SNP id current10748128
Contextintergenic_variant
Intergenic0
Allele frequency0.63
P value0.0000007
Pvalue mlog6.15490195998574
P value text
Or beta0.029
%95 Ci[0.015-0.043] unit increase
PlatformAffymetrix, Illumina [2704730] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST002702
PubMed ID25282103
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25282103
StudyDefining the role of common variation in the genomic and biological architecture of adult human height.
Disease/TraitHeight
Initial sample253,288 European ancestry individuals
Replication sample80,067 European ancestry individuals
Region12q15
Chromosome idchr12
Chromosome position69433878
Reported geneFRS2
Mapped geneLOC105369822
Upstream gene id
Downstream gene id
SNP gene ids105369822
Upstream gene distance
Downstream gene distance
SNP risk allelers10748128-T
SNPsrs10748128
Merged0
SNP id current10748128
Contextintergenic_variant
Intergenic0
Allele frequency0.352
P value4E-29
Pvalue mlog28.397940008672
P value text
Or beta0.038
%95 Ci[0.032-0.044] unit increase
PlatformAffymetrix, Illumina, Perlegen [2550858] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST002647