SNP Detail For rs4869742
1.Mapping Information
Human SNP ID rs4869742
Human chromosome chr6
Human SNP position 151586613
Pig chromosome chr1
Pig SNP position 17096595
2.Annotation Information
PubMed ID21540461
JournalBlood
Linkwww.ncbi.nlm.nih.gov/pubmed/21540461
StudyA genome-wide association study identifies novel loci associated with susceptibility to chronic myeloid leukemia.
Disease/TraitChronic myeloid leukemia
Initial sample201 Korean ancestry cases, 497 Korean ancestry controls
Replication sample237 Korean ancestry cases, 1,000 Korean ancestry controls, 232 European ancestry cases, 576 European ancestry controls
Region6q25.1
Chromosome idchr6
Chromosome position151586613
Reported geneAKAP12, ZBTB2, MTHFD1L, RMND1, C6orf211, ESR1, C6orf97
Mapped geneCCDC170
Upstream gene id
Downstream gene id
SNP gene ids80129
Upstream gene distance
Downstream gene distance
SNP risk allelers4869742-T
SNPsrs4869742
Merged0
SNP id current4869742
Contextintron_variant
Intergenic0
Allele frequency0.77
P value0.000002
Pvalue mlog5.69897000433601
P value text
Or beta1.67
%95 Ci[1.35-2.04]
PlatformAffymetrix [456522]
CNVN
Mapped traitchronic myelogenous leukemia
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000339
Study accessionGCST001063
PubMed ID22504420
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22504420
StudyGenome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
Disease/TraitBone mineral density
Initial sampleUp to 32,961 European and East Asian ancestry individuals
Replication sampleUp to 50,933 European and East Asian ancestry individuals
Region6q25.1
Chromosome idchr6
Chromosome position151586613
Reported geneC6orf97
Mapped geneCCDC170
Upstream gene id
Downstream gene id
SNP gene ids80129
Upstream gene distance
Downstream gene distance
SNP risk allelers4869742-T
SNPsrs4869742
Merged0
SNP id current4869742
Contextintron_variant
Intergenic0
Allele frequency0.31
P value4E-35
Pvalue mlog34.397940008672
P value text(LSBMD)
Or beta0.08
%95 Ci[NR] unit decrease
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitbone density
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003923
Study accessionGCST001482