SNP Detail For rs1950500
1.Mapping Information
Human SNP ID rs1950500
Human chromosome chr14
Human SNP position 24361644
Pig chromosome chr7
Pig SNP position 80207320
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
Region14q12
Chromosome idchr14
Chromosome position24361644
Reported geneNFATC4
Mapped geneRIPK3 - NFATC4
Upstream gene id11035
Downstream gene id4776
SNP gene ids
Upstream gene distance21608
Downstream gene distance5267
SNP risk allelers1950500-T
SNPsrs1950500
Merged0
SNP id current1950500
Contextupstream_gene_variant
Intergenic1
Allele frequency0.29
P value0.000000000000000002
Pvalue mlog17.698970004336
P value text
Or beta0.034
%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
Region14q12
Chromosome idchr14
Chromosome position24361644
Reported geneNFATC4
Mapped geneRIPK3 - NFATC4
Upstream gene id11035
Downstream gene id4776
SNP gene ids
Upstream gene distance21608
Downstream gene distance5267
SNP risk allelers1950500-T
SNPsrs1950500
Merged0
SNP id current1950500
Contextupstream_gene_variant
Intergenic1
Allele frequency0.3
P value0.00000000001
Pvalue mlog11
P value text
Or beta1.16
%95 Ci[NR]
PlatformAffymetrix, Illumina [~ 2800000] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST001956
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
Region14q12
Chromosome idchr14
Chromosome position24361644
Reported geneNFATC4
Mapped geneRIPK3 - NFATC4
Upstream gene id11035
Downstream gene id4776
SNP gene ids
Upstream gene distance21608
Downstream gene distance5267
SNP risk allelers1950500-T
SNPsrs1950500
Merged0
SNP id current1950500
Contextupstream_gene_variant
Intergenic1
Allele frequency0.296
P value3E-22
Pvalue mlog21.5228787452803
P value text
Or beta0.031
%95 Ci[0.025-0.037] unit increase
PlatformAffymetrix, Illumina, Perlegen [2550858] (imputed)
CNVN
Mapped traitbody height
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004339
Study accessionGCST002647