SNP Detail For rs2276035
1.Mapping Information
Human SNP ID rs2276035
Human chromosome chr11
Human SNP position 120475651
Pig chromosome chr9
Pig SNP position 52718279
2.Annotation Information
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
Region11q23.3
Chromosome idchr11
Chromosome position120475651
Reported geneARHGEF12
Mapped geneARHGEF12
Upstream gene id
Downstream gene id
SNP gene ids23365
Upstream gene distance
Downstream gene distance
SNP risk allelers2276035-A
SNPsrs2276035
Merged0
SNP id current2276035
Contextintron_variant
Intergenic0
Allele frequency0.16
P value0.000008
Pvalue mlog5.09691001300805
P value text
Or beta1.18
%95 Ci[NR]
PlatformIllumina [7594768] (imputed)
CNVN
Mapped traitopen-angle glaucoma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004190
Study accessionGCST002582
PubMed ID25637523
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/25637523
StudyARHGEF12 influences the risk of glaucoma by increasing intraocular pressure.
Disease/TraitIntraocular pressure
Initial sample8,015 individuals
Replication sample7,471 individuals
Region11q23.3
Chromosome idchr11
Chromosome position120475651
Reported genegenic
Mapped geneARHGEF12
Upstream gene id
Downstream gene id
SNP gene ids23365
Upstream gene distance
Downstream gene distance
SNP risk allelers2276035-A
SNPsrs2276035
Merged0
SNP id current2276035
Contextintron_variant
Intergenic0
Allele frequency
P value0.00000009
Pvalue mlog7.04575749056067
P value text
Or beta0.24
%95 Ci[0.14-0.34] unit increase
PlatformIllumina [NR] (imputed)
CNVN
Mapped traitintraocular pressure measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004695
Study accessionGCST002767