SNP Detail For rs12960119
1.Mapping Information
Human SNP ID rs12960119
Human chromosome chr18
Human SNP position 26034739
Pig chromosome chr6
Pig SNP position 103689706
2.Annotation Information
PubMed ID23585552
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/23585552
StudyGenome-wide association study identifies genetic risk underlying primary rhegmatogenous retinal detachment.
Disease/TraitRhegmatogenous retinal detachment
Initial sample867 European ancestry cases, 1,953 European ancestry controls
Replication sample1,966 European ancestry cases, 5,918 European ancestry controls
Region18q11.2
Chromosome idchr18
Chromosome position26034739
Reported geneTAF4B, SS18, PSMA8
Mapped geneSS18
Upstream gene id
Downstream gene id
SNP gene ids6760
Upstream gene distance
Downstream gene distance
SNP risk allelers12960119-G
SNPsrs12960119
Merged0
SNP id current12960119
Contextintron_variant
Intergenic0
Allele frequency0.075
P value0.000002
Pvalue mlog5.69897000433601
P value text
Or beta1.26
%95 Ci[1.14-1.39]
PlatformIllumina [299737]
CNVN
Mapped traitrhegmatogenous retinal detachment
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0005240
Study accessionGCST001966