SNP Detail For rs7961894
1.Mapping Information
Human SNP ID rs7961894
Human chromosome chr12
Human SNP position 121927677
Pig chromosome chr14
Pig SNP position 32592322
2.Annotation Information
PubMed ID19110211
JournalAm J Hum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19110211
StudyA genome-wide association study identifies three loci associated with mean platelet volume.
Disease/TraitMean platelet volume
Initial sample1,606 European ancestry individuals
Replication sample8,617 European ancestry individuals
Region12q24.31
Chromosome idchr12
Chromosome position121927677
Reported geneWDR66
Mapped geneWDR66
Upstream gene id
Downstream gene id
SNP gene ids144406
Upstream gene distance
Downstream gene distance
SNP risk allelers7961894-A
SNPsrs7961894
Merged0
SNP id current7961894
Contextintron_variant
Intergenic0
Allele frequency0.11
P value7E-48
Pvalue mlog47.1549019599857
P value text
Or beta0.03
%95 Ci[0.03-0.04] per log fl increase
PlatformAffymetrix [335152]
CNVN
Mapped traitmean platelet volume
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004584
Study accessionGCST000305
PubMed ID19820697
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/19820697
StudyA genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
Disease/TraitMean platelet volume
Initial sample4,627 European ancestry individuals
Replication sample9,316 European ancestry individuals
Region12q24.31
Chromosome idchr12
Chromosome position121927677
Reported geneWDR66
Mapped geneWDR66
Upstream gene id
Downstream gene id
SNP gene ids144406
Upstream gene distance
Downstream gene distance
SNP risk allelers7961894-T
SNPsrs7961894
Merged0
SNP id current7961894
Contextintron_variant
Intergenic0
Allele frequencyNR
P value3E-44
Pvalue mlog43.5228787452803
P value text
Or beta0.03
%95 Ci[0.027-0.035] fl increase
PlatformAffymetrix, Illumina [~ 2110000] (imputed)
CNVN
Mapped traitmean platelet volume
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004584
Study accessionGCST000497
PubMed ID22139419
JournalNature
Linkwww.ncbi.nlm.nih.gov/pubmed/22139419
StudyNew gene functions in megakaryopoiesis and platelet formation.
Disease/TraitMean platelet volume
Initial sample16,948 European ancestry individuals, 1,652 Val Borbera individuals
Replication sampleUp to 18,838 European ancestry individuals
Region12q24.31
Chromosome idchr12
Chromosome position121927677
Reported geneWDR66
Mapped geneWDR66
Upstream gene id
Downstream gene id
SNP gene ids144406
Upstream gene distance
Downstream gene distance
SNP risk allelers7961894-T
SNPsrs7961894
Merged0
SNP id current7961894
Contextintron_variant
Intergenic0
Allele frequencyNR
P value1E-103
Pvalue mlog103
P value text
Or beta0.03
%95 Ci[0.028-0.032] ln(fl) increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitmean platelet volume
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004584
Study accessionGCST001335
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
Region12q24.31
Chromosome idchr12
Chromosome position121927677
Reported geneWDR66
Mapped geneWDR66
Upstream gene id
Downstream gene id
SNP gene ids144406
Upstream gene distance
Downstream gene distance
SNP risk allelers7961894-C
SNPsrs7961894
Merged0
SNP id current7961894
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.0000000001
Pvalue mlog10
P value text
Or beta3.923
%95 Ci[2.73-5.12] 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 ID24026423
JournalHum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24026423
StudyA genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
Disease/TraitMean platelet volume
Initial sample6,291 European ancestry individuals
Replication sampleNA
Region12q24.31
Chromosome idchr12
Chromosome position121927677
Reported geneTMEM120B, SETD1B, PSMD9, BCL7A, WDR66
Mapped geneWDR66
Upstream gene id
Downstream gene id
SNP gene ids144406
Upstream gene distance
Downstream gene distance
SNP risk allelers7961894-T
SNPsrs7961894
Merged0
SNP id current7961894
Contextintron_variant
Intergenic0
Allele frequency0.89
P value6E-38
Pvalue mlog37.2218487496163
P value text
Or beta0.31
%95 Ci[NR] unit decrease
PlatformIllumina [476395]
CNVN
Mapped traitmean platelet volume
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004584
Study accessionGCST002184