SNP Detail For rs6430585
1.Mapping Information
Human SNP ID rs6430585
Human chromosome chr2
Human SNP position 135749357
Pig chromosome chr15
Pig SNP position 18588431
2.Annotation Information
PubMed ID21979947
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21979947
StudyA genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.
Disease/TraitCorneal structure
Initial sample222 European ancestry cases, 3,324 European ancestry controls
Replication sample304 European ancestry cases, 518 European ancestry controls, 146 European ancestry cases and 161 European ancestry controls from 70 families
Region2q21.3
Chromosome idchr2
Chromosome position135749357
Reported geneUBXD2
Mapped geneUBXN4
Upstream gene id
Downstream gene id
SNP gene ids23190
Upstream gene distance
Downstream gene distance
SNP risk allelers6430585-?
SNPsrs6430585
Merged0
SNP id current6430585
Contextintron_variant
Intergenic0
Allele frequencyNR
P value0.000001
Pvalue mlog6
P value text
Or beta1.39
%95 Ci
PlatformIllumina [~ 290000]
CNVN
Mapped traitKeratoconus
Mapped trait URIhttp://www.orpha.net/ORDO/Orphanet_156071
Study accessionGCST001261