SNP Detail For rs17522122
1.Mapping Information
Human SNP ID rs17522122
Human chromosome chr14
Human SNP position 32833676
Pig chromosome chr7
Pig SNP position 71764830
2.Annotation Information
PubMed ID25673413
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/25673413
StudyGenetic studies of body mass index yield new insights for obesity biology.
Disease/TraitBody mass index
Initial sampleup to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals
Replication sampleup to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828
Region14q12
Chromosome idchr14
Chromosome position32833676
Reported geneAKAP6
Mapped geneAKAP6
Upstream gene id
Downstream gene id
SNP gene ids9472
Upstream gene distance
Downstream gene distance
SNP risk allelers17522122-T
SNPsrs17522122
Merged0
SNP id current17522122
Context3_prime_UTR_variant
Intergenic0
Allele frequency0.478
P value0.000006
Pvalue mlog5.22184874961635
P value text(EA, women)
Or beta0.019
%95 Ci[0.011-0.027] kg/m2 increase
PlatformAffymetrix, Illumina [2550021]
CNVN
Mapped traitbody mass index
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004340
Study accessionGCST002783
PubMed ID25673413
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/25673413
StudyGenetic studies of body mass index yield new insights for obesity biology.
Disease/TraitBody mass index
Initial sampleup to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals
Replication sampleup to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828
Region14q12
Chromosome idchr14
Chromosome position32833676
Reported geneAKAP6
Mapped geneAKAP6
Upstream gene id
Downstream gene id
SNP gene ids9472
Upstream gene distance
Downstream gene distance
SNP risk allelers17522122-T
SNPsrs17522122
Merged0
SNP id current17522122
Context3_prime_UTR_variant
Intergenic0
Allele frequency0.476
P value0.000003
Pvalue mlog5.52287874528033
P value text(EA)
Or beta0.015
%95 Ci[0.0087-0.0217] kg/m2 increase
PlatformAffymetrix, Illumina [2550021]
CNVN
Mapped traitbody mass index
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004340
Study accessionGCST002783
PubMed ID25644384
JournalMol Psychiatry
Linkwww.ncbi.nlm.nih.gov/pubmed/25644384
StudyGenetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53鈥?49).
Disease/TraitCognitive function
Initial sample51,719 European ancestry individuals 1,473 Erasmus Rupchen Family individuals, 327 Korculan individuals, 430 Orcadian individuals
Replication sampleNA
Region14q12
Chromosome idchr14
Chromosome position32833676
Reported geneAKAP6
Mapped geneAKAP6
Upstream gene id
Downstream gene id
SNP gene ids9472
Upstream gene distance
Downstream gene distance
SNP risk allelers17522122-?
SNPsrs17522122
Merged0
SNP id current17522122
Context3_prime_UTR_variant
Intergenic0
Allele frequencyNR
P value0.00000003
Pvalue mlog7.52287874528033
P value text
Or beta0.0311
%95 Ci[0.020-0.042] unit decrease
PlatformAffymetrix, Illumina [2478500] (imputed)
CNVN
Mapped traitcognition
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003925
Study accessionGCST002774
PubMed ID25673413
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/25673413
StudyGenetic studies of body mass index yield new insights for obesity biology.
Disease/TraitBody mass index
Initial sampleup to 104,666 European ancestry male individuals, up to 132,115 European ancestry female individuals, 370 African American male individuals, 517 African American female individuals, 512 Hispanic male individuals, 764 Hispanic female individuals
Replication sampleup to 48,274 European ancestry male individuals, up to 39,864 European ancestry female individuals, 2,441 African American or Afro-Caribbean male individuals, 6,314 African American or Afro-Caribbean female individuals, 919 Filipino male individuals, 828
Region14q12
Chromosome idchr14
Chromosome position32833676
Reported geneAKAP6
Mapped geneAKAP6
Upstream gene id
Downstream gene id
SNP gene ids9472
Upstream gene distance
Downstream gene distance
SNP risk allelers17522122-T
SNPsrs17522122
Merged0
SNP id current17522122
Context3_prime_UTR_variant
Intergenic0
Allele frequency0.471
P value0.000003
Pvalue mlog5.52287874528033
P value text
Or beta0.015
%95 Ci[0.0084-0.0206] kg/m2 increase
PlatformAffymetrix, Illumina [2550021]
CNVN
Mapped traitbody mass index
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004340
Study accessionGCST002783