SNP Detail For rs4236601
1.Mapping Information
Human SNP ID rs4236601
Human chromosome chr7
Human SNP position 116522675
Pig chromosome chr18
Pig SNP position 31782131
2.Annotation Information
PubMed ID20835238
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20835238
StudyCommon variants near CAV1 and CAV2 are associated with primary open-angle glaucoma.
Disease/TraitGlaucoma (primary open-angle)
Initial sample1,263 European ancestry cases, 34,887 European ancestry controls
Replication sample2,175 European ancestry cases, 2,064 European ancestry controls
Region7q31.2
Chromosome idchr7
Chromosome position116522675
Reported geneCAV1, CAV2
Mapped geneCAV2 - CAV1
Upstream gene id858
Downstream gene id857
SNP gene ids
Upstream gene distance14134
Downstream gene distance2110
SNP risk allelers4236601-A
SNPsrs4236601
Merged0
SNP id current4236601
Contextupstream_gene_variant
Intergenic1
Allele frequency0.23
P value0.00000000002
Pvalue mlog10.698970004336
P value text
Or beta1.27
%95 Ci[1.18-1.36]
PlatformIllumina [303117]
CNVN
Mapped traitopen-angle glaucoma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004190
Study accessionGCST000793
PubMed ID25173105
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25173105
StudyCommon variants near ABCA1, AFAP1 and GMDS confer risk of primary open-angle glaucoma.
Disease/TraitGlaucoma (primary open-angle)
Initial sample1,155 European ancestry cases, 1,922 European ancestry controls
Replication sample3,548 European ancestry cases, 9,496 European ancestry controls
Region7q31.2
Chromosome idchr7
Chromosome position116522675
Reported geneCAV1, CAV2
Mapped geneCAV2 - CAV1
Upstream gene id858
Downstream gene id857
SNP gene ids
Upstream gene distance14134
Downstream gene distance2110
SNP risk allelers4236601-A
SNPsrs4236601
Merged0
SNP id current4236601
Contextupstream_gene_variant
Intergenic1
Allele frequencyNR
P value0.0000005
Pvalue mlog6.30102999566398
P value text
Or beta1.2
%95 Ci[1.12-1.28]
PlatformIllumina [7594768] (imputed)
CNVN
Mapped traitopen-angle glaucoma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004190
Study accessionGCST002582