SNP Detail For rs2282679
1.Mapping Information
Human SNP ID rs2282679
Human chromosome chr4
Human SNP position 71742666
Pig chromosome chr8
Pig SNP position 72228777
2.Annotation Information
PubMed ID20418485
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20418485
StudyGenome-wide association study of circulating vitamin D levels.
Disease/TraitVitamin D levels
Initial sample4,501 European ancestry individuals
Replication sample2,221 European ancestry individuals
Region4q13.3
Chromosome idchr4
Chromosome position71742666
Reported geneGC
Mapped geneGC
Upstream gene id
Downstream gene id
SNP gene ids2638
Upstream gene distance
Downstream gene distance
SNP risk allelers2282679-C
SNPsrs2282679
Merged0
SNP id current2282679
Contextintron_variant
Intergenic0
Allele frequency0.26
P value2E-49
Pvalue mlog48.698970004336
P value text
Or beta0.38
%95 Ci[0.32-0.44] unit decrease
PlatformAffymetrix, Illumina [593253] (imputed)
CNVN
Mapped traitvitamin D measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004631
Study accessionGCST000664
PubMed ID20541252
JournalLancet
Linkwww.ncbi.nlm.nih.gov/pubmed/20541252
StudyCommon genetic determinants of vitamin D insufficiency: a genome-wide association study.
Disease/TraitVitamin D insufficiency
Initial sample16,125 European ancestry individuals
Replication sample17,871 European ancestry individuals
Region4q13.3
Chromosome idchr4
Chromosome position71742666
Reported geneGC
Mapped geneGC
Upstream gene id
Downstream gene id
SNP gene ids2638
Upstream gene distance
Downstream gene distance
SNP risk allelers2282679-?
SNPsrs2282679
Merged0
SNP id current2282679
Contextintron_variant
Intergenic0
Allele frequency0.29
P value2E-109
Pvalue mlog108.698970004336
P value text
Or beta
%95 Ci
PlatformAffymetrix, Illumina [up to 2548976] (imputed)
CNVN
Mapped traitvitamin D deficiency
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003762
Study accessionGCST000697
PubMed ID22673963
JournalHum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/22673963
StudyGenome-wide association analysis of circulating vitamin D levels in children with asthma.
Disease/TraitVitamin D levels
Initial sample422 European ancestry trios with asthmatic children, 150 European ancestry asthmatic child cases
Replication sample1,108 Hispanic asthmatic child cases
Region4q13.3
Chromosome idchr4
Chromosome position71742666
Reported geneGC
Mapped geneGC
Upstream gene id
Downstream gene id
SNP gene ids2638
Upstream gene distance
Downstream gene distance
SNP risk allelers2282679-?
SNPsrs2282679
Merged0
SNP id current2282679
Contextintron_variant
Intergenic0
Allele frequency0.29
P value0.00000000000002
Pvalue mlog13.698970004336
P value text
Or beta
%95 Ci
PlatformIllumina [547645]
CNVN
Mapped traitvitamin D measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004631
Study accessionGCST001560