SNP Detail For rs4812048
1.Mapping Information
Human SNP ID rs4812048
Human chromosome chr20
Human SNP position 59012716
Pig chromosome chr17
Pig SNP position 66523534
2.Annotation Information
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
Region20q13.32
Chromosome idchr20
Chromosome position59012716
Reported geneTUBB1, CTSZ
Mapped geneCTSZ - TUBB1
Upstream gene id1522
Downstream gene id81027
SNP gene ids
Upstream gene distance5462
Downstream gene distance6538
SNP risk allelers4812048-C
SNPsrs4812048
Merged0
SNP id current4812048
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.000000001
Pvalue mlog9
P value text
Or beta0.008
%95 Ci[0.006-0.01] 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 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
Region20q13.32
Chromosome idchr20
Chromosome position59012716
Reported geneCTSZ
Mapped geneCTSZ - TUBB1
Upstream gene id1522
Downstream gene id81027
SNP gene ids
Upstream gene distance5462
Downstream gene distance6538
SNP risk allelers4812048-C
SNPsrs4812048
Merged0
SNP id current4812048
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.000007
Pvalue mlog5.15490195998574
P value text
Or beta0.09
%95 Ci[NR] unit increase
PlatformIllumina [476395]
CNVN
Mapped traitmean platelet volume
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004584
Study accessionGCST002184