SNP Detail For rs12296937
1.Mapping Information
Human SNP ID rs12296937
Human chromosome chr12
Human SNP position 81100473
Pig chromosome chr5
Pig SNP position 105346125
2.Annotation Information
PubMed ID25352737
JournalMol Vis
Linkwww.ncbi.nlm.nih.gov/pubmed/25352737
StudyElectronic medical records and genomics (eMERGE) network exploration in cataract: Several new potential susceptibility loci.
Disease/TraitAge-related cataracts (age at onset)
Initial sample5,503 European, Black, and other ancestry cases age 50 and older
Replication sampleNA
Region12q21.31
Chromosome idchr12
Chromosome position81100473
Reported geneLIN7A, ACSS3, PPFIA2
Mapped geneACSS3
Upstream gene id
Downstream gene id
SNP gene ids79611
Upstream gene distance
Downstream gene distance
SNP risk allelers12296937-G
SNPsrs12296937
Merged0
SNP id current12296937
Contextintron_variant
Intergenic0
Allele frequency0.0267
P value0.0000006
Pvalue mlog6.22184874961635
P value text
Or beta1.08
%95 Ci[NR] unit decrease
PlatformIllumina [530101]
CNVN
Mapped traitage at onset, age-related cataract
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004847, http://purl.obolibrary.org/obo/HP_0011141
Study accessionGCST002618