SNP Detail For rs172629
1.Mapping Information
Human SNP ID rs172629
Human chromosome chr4
Human SNP position 54541595
Pig chromosome chr8
Pig SNP position 43352886
2.Annotation Information
PubMed ID19862010
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19862010
StudyMultiple loci influence erythrocyte phenotypes in the CHARGE Consortium.
Disease/TraitMean corpuscular volume
Initial sample24,167 European ancestry individuals
Replication sample9,456 European ancestry individuals
Region4q12
Chromosome idchr4
Chromosome position54541595
Reported geneKIT
Mapped geneLOC105377656 - LOC339978
Upstream gene id105377656
Downstream gene id339978
SNP gene ids
Upstream gene distance185491
Downstream gene distance61616
SNP risk allelers172629-G
SNPsrs172629
Merged0
SNP id current172629
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.000000000000001
Pvalue mlog15
P value text
Or beta0
%95 Ci[0.003-0.006] fl decrease
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitmean corpuscular volume
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004526
Study accessionGCST000503
PubMed ID20139978
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20139978
StudyGenome-wide association study of hematological and biochemical traits in a Japanese population.
Disease/TraitMean corpuscular volume
Initial sample14,364 Japanese ancestry individuals
Replication sampleNA
Region4q12
Chromosome idchr4
Chromosome position54541595
Reported geneKIT
Mapped geneLOC105377656 - LOC339978
Upstream gene id105377656
Downstream gene id339978
SNP gene ids
Upstream gene distance185491
Downstream gene distance61616
SNP risk allelers172629-C
SNPsrs172629
Merged0
SNP id current172629
Contextintergenic_variant
Intergenic1
Allele frequency0.74
P value1E-27
Pvalue mlog27
P value text
Or beta0.698
%95 Ci[0.573-0.824] unit decrease
PlatformIllumina [561583]
CNVN
Mapped traitmean corpuscular volume
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004526
Study accessionGCST000585