SNP Detail For rs6894139
1.Mapping Information
Human SNP ID rs6894139
Human chromosome chr5
Human SNP position 89031965
Pig chromosome chr2
Pig SNP position 99073049
2.Annotation Information
PubMed ID24249740
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24249740
StudyMultistage genome-wide association meta-analyses identified two new loci for bone mineral density.
Disease/TraitBone mineral density
Initial sample5,833 European ancestry females, 2,639 European ancestry males, 784 Han Chinese ancestry females, 763 Han Chinese ancestry males, 712 African American females, 409 Hispanic females
Replication sample7,010 European ancestry females, 3,772 European ancestry males, 2,980 East Asian ancestry females, 2,159 East Asian ancestry males
Region5q14.3
Chromosome idchr5
Chromosome position89031965
Reported geneMEF2C
Mapped geneMEF2C-AS1, LOC105379072
Upstream gene id
Downstream gene id
SNP gene ids101929423, 105379072
Upstream gene distance
Downstream gene distance
SNP risk allelers6894139-?
SNPsrs6894139
Merged0
SNP id current6894139
Contextnon_coding_transcript_exon_variant
Intergenic0
Allele frequencyNR
P value0.000000000000000007
Pvalue mlog17.1549019599857
P value text(FNK)
Or beta
%95 Ci
PlatformAffymetrix, Illumina [5842825] (imputed)
CNVN
Mapped traitbone density
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003923
Study accessionGCST002276
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
Region5q14.3
Chromosome idchr5
Chromosome position89031965
Reported geneMEF2C
Mapped geneMEF2C-AS1, LOC105379072
Upstream gene id
Downstream gene id
SNP gene ids101929423, 105379072
Upstream gene distance
Downstream gene distance
SNP risk allelers6894139-T
SNPsrs6894139
Merged0
SNP id current6894139
Contextnon_coding_transcript_exon_variant
Intergenic0
Allele frequency0.562
P value6E-24
Pvalue mlog23.2218487496163
P value text
Or beta0.03
%95 Ci[0.024-0.036] unit increase
PlatformAffymetrix, Illumina, Perlegen [2550858] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST002647