SNP Detail For rs2071348
1.Mapping Information
Human SNP ID rs2071348
Human chromosome chr11
Human SNP position 5242916
Pig chromosome chr9
Pig SNP position 5646144
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
Region11p15.4
Chromosome idchr11
Chromosome position5242916
Reported geneHBE1, HBG2, HBD, HBBP1, HBG1
Mapped geneHBBP1
Upstream gene id
Downstream gene id
SNP gene ids3044
Upstream gene distance
Downstream gene distance
SNP risk allelers2071348-?
SNPsrs2071348
Merged0
SNP id current2071348
Contextintron_variant
Intergenic0
Allele frequency0.5
P value0.000000000000003
Pvalue mlog14.5228787452803
P value text
Or beta4.05
%95 Ci[2.64-6.21]
PlatformIllumina [548094]
CNVN
Mapped traitHemoglobin E disease
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_2133
Study accessionGCST000532