SNP Detail For rs10862688
1.Mapping Information
Human SNP ID rs10862688
Human chromosome chr12
Human SNP position 83529133
Pig chromosome chr5
Pig SNP position 103157437
2.Annotation Information
PubMed ID25241763
JournalNat Commun
Linkwww.ncbi.nlm.nih.gov/pubmed/25241763
StudyMeta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process.
Disease/TraitVertical cup-disc ratio
Initial sample18,963 European ancestry individuals, 2,131 Erasmus Rucphen individuals
Replication sample2,453 Chinese ancestry individuals, 2,026 Indian ancestry individuals, 2,305 Malay ancestry individuals
Region12q21.31
Chromosome idchr12
Chromosome position83529133
Reported geneTMTC2
Mapped geneLOC105369874 - LOC105369875
Upstream gene id105369874
Downstream gene id105369875
SNP gene ids
Upstream gene distance56525
Downstream gene distance963280
SNP risk allelers10862688-G
SNPsrs10862688
Merged0
SNP id current10862688
Contextintergenic_variant
Intergenic1
Allele frequencyNR
P value0.00000000001
Pvalue mlog11
P value text
Or beta0.008
%95 Ci[0.0060-0.0100] unit increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitoptic disc size measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004832
Study accessionGCST002626