SNP Detail For rs3811444
1.Mapping Information
Human SNP ID rs3811444
Human chromosome chr1
Human SNP position 247876149
Pig chromosome chr2
Pig SNP position 56454491
2.Annotation Information
PubMed ID22139419
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/22139419
StudyNew gene functions in megakaryopoiesis and platelet formation.
Disease/TraitPlatelet count
Initial sample47,005 European ancestry individuals, 1,661 Val Borbera individuals
Replication sampleUp to 18,838 European ancestry individuals
Region1q44
Chromosome idchr1
Chromosome position247876149
Reported geneTRIM58
Mapped geneTRIM58
Upstream gene id
Downstream gene id
SNP gene ids25893
Upstream gene distance
Downstream gene distance
SNP risk allelers3811444-C
SNPsrs3811444
Merged0
SNP id current3811444
Contextmissense_variant
Intergenic0
Allele frequencyNR
P value0.000000006
Pvalue mlog8.22184874961635
P value text
Or beta3.346
%95 Ci[2.22-4.47] 10^9/l increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitplatelet count
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004309
Study accessionGCST001337
PubMed ID23222517
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/23222517
StudySeventy-five genetic loci influencing the human red blood cell.
Disease/TraitRed blood cell traits
Initial sample62,553 European ancestry individuals, 9,308 South Asian ancestry individuals
Replication sample63,506 European ancestry individuals
Region1q44
Chromosome idchr1
Chromosome position247876149
Reported geneTRIM58
Mapped geneTRIM58
Upstream gene id
Downstream gene id
SNP gene ids25893
Upstream gene distance
Downstream gene distance
SNP risk allelers3811444-T
SNPsrs3811444
Merged0
SNP id current3811444
Contextmissense_variant
Intergenic0
Allele frequency0.35
P value0.0000000005
Pvalue mlog9.30102999566398
P value text(EA, RBCC)
Or beta0.018
%95 Ci[0.012-0.024] unit increase
PlatformAffymetrix, Illumina, Perlegen [2711806] (imputed)
CNVN
Mapped traiterythrocyte count
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004305
Study accessionGCST001765
PubMed ID25500335
JournalProstaglandins Leukot Essent Fatty Acids
Linkwww.ncbi.nlm.nih.gov/pubmed/25500335
StudyA genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study.
Disease/TraitRed blood cell fatty acid levels
Initial sample2,633 individuals
Replication sampleNA
Region1q44
Chromosome idchr1
Chromosome position247876149
Reported geneTRIM58
Mapped geneTRIM58
Upstream gene id
Downstream gene id
SNP gene ids25893
Upstream gene distance
Downstream gene distance
SNP risk allelers3811444-T
SNPsrs3811444
Merged0
SNP id current3811444
Contextmissense_variant
Intergenic0
Allele frequency0.32
P value0.00000000005
Pvalue mlog10.3010299956639
P value text(OA)
Or beta0.127
%95 Ci[NR] unit decrease
PlatformAffymetrix [~ 2500000] (imputed)
CNVN
Mapped traitfatty acid measurement, oleic acid measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005110, http://www.ebi.ac.uk/efo/EFO_0006810
Study accessionGCST002712