SNP Detail For rs6684514
1.Mapping Information
Human SNP ID rs6684514
Human chromosome chr1
Human SNP position 156285665
Pig chromosome chr4
Pig SNP position 102467045
2.Annotation Information
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 hemoglobin concentration
Initial sample14,377 Japanese ancestry individuals
Replication sampleNA
Region1q22
Chromosome idchr1
Chromosome position156285665
Reported geneCCT3, BGLAP, PAQR6, SMG5, TMEM79, C1orf182, C1orf85, VHLL
Mapped geneTMEM79
Upstream gene id
Downstream gene id
SNP gene ids84283
Upstream gene distance
Downstream gene distance
SNP risk allelers6684514-A
SNPsrs6684514
Merged0
SNP id current6684514
Contextmissense_variant
Intergenic0
Allele frequency0.21
P value0.000000003
Pvalue mlog8.52287874528033
P value text
Or beta0.086
%95 Ci[0.057-0.115] unit decrease
PlatformIllumina [561583]
CNVN
Mapped traithemoglobin measurement, mean corpuscular hemoglobin
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004509, http://www.ebi.ac.uk/efo/EFO_0004527
Study accessionGCST000582
PubMed ID24647736
JournalDiabetes
Linkwww.ncbi.nlm.nih.gov/pubmed/24647736
StudyMultiple nonglycemic genomic loci are newly associated with blood level of glycated hemoglobin in East Asians.
Disease/TraitGlycated hemoglobin levels
Initial sample17,290 East Asian ancestry individuals, 1,727 Malay ancestry individuals
Replication sampleup to 13,585 East Asian ancestry individuals
Region1q22
Chromosome idchr1
Chromosome position156285665
Reported geneCCT3, TMEM79, c1orf85
Mapped geneTMEM79
Upstream gene id
Downstream gene id
SNP gene ids84283
Upstream gene distance
Downstream gene distance
SNP risk allelers6684514-G
SNPsrs6684514
Merged0
SNP id current6684514
Contextmissense_variant
Intergenic0
Allele frequency0.76
P value1E-23
Pvalue mlog23
P value text
Or beta0.09
%95 Ci[0.070-0.110] unit increase
PlatformAffymetrix, Illumina [up to 2400000] (imputed)
CNVN
Mapped traitA1C measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004541
Study accessionGCST002390