SNP Detail For rs9376092
1.Mapping Information
Human SNP ID rs9376092
Human chromosome chr6
Human SNP position 135106006
Pig chromosome chr1
Pig SNP position 32413255
2.Annotation Information
PubMed ID20183929
JournalHum Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20183929
StudyA genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E.
Disease/TraitBeta thalassemia/hemoglobin E disease
Initial sample235 Thai-Chinese ancestry mild cases, 383 Thai-Chinese ancestry severe cases
Replication sample52 Indonesian ancestry mild cases, 122 Indonesian ancestry severe cases
Region6q23.3
Chromosome idchr6
Chromosome position135106006
Reported geneHBS1L, MYB
Mapped geneHBS1L - LOC105378010
Upstream gene id10767
Downstream gene id105378010
SNP gene ids
Upstream gene distance51108
Downstream gene distance839
SNP risk allelers9376092-?
SNPsrs9376092
Merged0
SNP id current9376092
Contextupstream_gene_variant
Intergenic1
Allele frequency0.23
P value0.00000000002
Pvalue mlog10.698970004336
P value text
Or beta2.91
%95 Ci[2.12-3.99]
PlatformIllumina [548094]
CNVN
Mapped traitHemoglobin E disease
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_2133
Study accessionGCST000532
PubMed ID25849990
JournalNat Commun
Linkwww.ncbi.nlm.nih.gov/pubmed/25849990
StudyGenetic variation at MECOM, TERT, JAK2 and HBS1L-MYB predisposes to myeloproliferative neoplasms.
Disease/TraitMyeloproliferative neoplasms
Initial sample524 European ancestry JAK2 negative cases, 2,674 European ancestry controls
Replication sample1,383 European ancestry JAK2 negative cases, 4,609 European ancestry controls, 526 JAK2 negative cases, 5,506 controls
Region6q23.3
Chromosome idchr6
Chromosome position135106006
Reported geneHBS1L, MYB
Mapped geneHBS1L - LOC105378010
Upstream gene id10767
Downstream gene id105378010
SNP gene ids
Upstream gene distance51108
Downstream gene distance839
SNP risk allelers9376092-A
SNPsrs9376092
Merged0
SNP id current9376092
Contextupstream_gene_variant
Intergenic1
Allele frequency0.27
P value0.000005
Pvalue mlog5.30102999566398
P value text
Or beta1.18
%95 Ci[1.10-1.26]
PlatformAffymetrix [2098039] (imputed)
CNVN
Mapped traitmyeloproliferative disorder
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004251
Study accessionGCST002840