SNP Detail For rs1800813
1.Mapping Information
Human SNP ID rs1800813
Human chromosome chr4
Human SNP position 54228300
Pig chromosome chr8
Pig SNP position 43007525
2.Annotation Information
PubMed ID24963161
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/24963161
StudyCMPK1 and RBP3 are associated with corneal curvature in Asian populations.
Disease/TraitCorneal curvature
Initial sample3,178 Chinese ancestry individuals, 2,138 Malay ancestry individuals, 2,124 Asian Indian ancestry individuals
Replication sample2,473 Chinese ancestry individuals, 2,747 Japanese ancestry individuals
Region4q12
Chromosome idchr4
Chromosome position54228300
Reported genePDGFRA
Mapped geneGSX2 - PDGFRA
Upstream gene id170825
Downstream gene id5156
SNP gene ids
Upstream gene distance126345
Downstream gene distance797
SNP risk allelers1800813-G
SNPsrs1800813
Merged0
SNP id current1800813
Contextintron_variant
Intergenic1
Allele frequency0.77
P value0.000000008
Pvalue mlog8.09691001300805
P value text
Or beta0.1
%95 Ci[0.061-0.139] unit increase
PlatformIllumina [~ 7000000] (imputed)
CNVN
Mapped traitcorneal topography
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004345
Study accessionGCST002502