SNP Detail For rs6141
1.Mapping Information
Human SNP ID rs6141
Human chromosome chr3
Human SNP position 184372478
Pig chromosome chr13
Pig SNP position 131750850
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
Region3q27.1
Chromosome idchr3
Chromosome position184372478
Reported geneTHPO
Mapped geneTHPO
Upstream gene id
Downstream gene id
SNP gene ids7066
Upstream gene distance
Downstream gene distance
SNP risk allelers6141-T
SNPsrs6141
Merged0
SNP id current6141
Context3_prime_UTR_variant
Intergenic0
Allele frequencyNR
P value0.00000006
Pvalue mlog7.22184874961635
P value text
Or beta2.467
%95 Ci[1.57-3.36] 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 ID20139978
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20139978
StudyGenome-wide association study of hematological and biochemical traits in a Japanese population.
Disease/TraitPlatelet count
Initial sample14,806 Japanese ancestry individuals
Replication sampleNA
Region3q27.1
Chromosome idchr3
Chromosome position184372478
Reported geneTHPO, CHRD
Mapped geneTHPO
Upstream gene id
Downstream gene id
SNP gene ids7066
Upstream gene distance
Downstream gene distance
SNP risk allelers6141-T
SNPsrs6141
Merged0
SNP id current6141
Context3_prime_UTR_variant
Intergenic0
Allele frequency0.45
P value0.00000000005
Pvalue mlog10.3010299956639
P value text
Or beta0.076
%95 Ci[0.052-0.100] unit increase
PlatformIllumina [561583]
CNVN
Mapped traitplatelet count
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004309
Study accessionGCST000580
PubMed ID25918132
JournalToxicol Sci
Linkwww.ncbi.nlm.nih.gov/pubmed/25918132
StudyGenome-wide association study identifies novel loci associated with diisocyanate-induced occupational asthma.
Disease/TraitDiisocyanate-induced asthma
Initial sample74 European ancestry cases, 824 European ancestry controls
Replication sampleNA
Region3q27.1
Chromosome idchr3
Chromosome position184372478
Reported geneTHPO, POLR2H, CHRD
Mapped geneTHPO
Upstream gene id
Downstream gene id
SNP gene ids7066
Upstream gene distance
Downstream gene distance
SNP risk allelers6141-G
SNPsrs6141
Merged0
SNP id current6141
Context3_prime_UTR_variant
Intergenic0
Allele frequency0.484
P value0.000003
Pvalue mlog5.52287874528033
P value text
Or beta0
%95 Ci
PlatformIllumina [1556551]
CNVN
Mapped traitresponse to diisocyanate, asthma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006995, http://www.ebi.ac.uk/efo/EFO_0000270
Study accessionGCST002875