SNP Detail For rs1362756
1.Mapping Information
Human SNP ID rs1362756
Human chromosome chr16
Human SNP position 51424379
Pig chromosome chr6
Pig SNP position 29998901
2.Annotation Information
PubMed ID20548946
JournalPLoS Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20548946
StudyA genome-wide association study of optic disc parameters.
Disease/TraitOptic disc parameters
Initial sample7,360 European ancestry individuals
Replication sample4,455 European ancestry individuals
Region16q12.1
Chromosome idchr16
Chromosome position51424379
Reported geneSALL1
Mapped geneLOC102723323
Upstream gene id
Downstream gene id
SNP gene ids102723323
Upstream gene distance
Downstream gene distance
SNP risk allelers1362756-C
SNPsrs1362756
Merged0
SNP id current1362756
Contextintergenic_variant
Intergenic0
Allele frequency0.28
P value0.000000005
Pvalue mlog8.30102999566398
P value text
Or beta0.03
%95 Ci[0.02-0.04] mm increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitoptic disc size measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004832
Study accessionGCST000699
PubMed ID25631615
JournalGenet Epidemiol
Linkwww.ncbi.nlm.nih.gov/pubmed/25631615
StudyMeta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.
Disease/TraitOptic disc area
Initial sample15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals
Replication sample2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals
Region16q12.1
Chromosome idchr16
Chromosome position51424379
Reported geneSALL1
Mapped geneLOC102723323
Upstream gene id
Downstream gene id
SNP gene ids102723323
Upstream gene distance
Downstream gene distance
SNP risk allelers1362756-C
SNPsrs1362756
Merged0
SNP id current1362756
Contextintergenic_variant
Intergenic0
Allele frequency0.29
P value0.00000000009
Pvalue mlog10.0457574905606
P value text
Or beta0.033
%95 Ci[0.023-0.043] unit increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitoptic disc area measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006937
Study accessionGCST002765
PubMed ID25631615
JournalGenet Epidemiol
Linkwww.ncbi.nlm.nih.gov/pubmed/25631615
StudyMeta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology.
Disease/TraitOptic disc area
Initial sample15,117 European ancestry individuals, 2,131 Erasmus Rucphen Family individuals
Replication sample2,405 Chinese ancestry individuals, 2,305 Malay ancestry individuals, 2,131 Indian ancestry individuals
Region16q12.1
Chromosome idchr16
Chromosome position51424379
Reported geneSALL1
Mapped geneLOC102723323
Upstream gene id
Downstream gene id
SNP gene ids102723323
Upstream gene distance
Downstream gene distance
SNP risk allelers1362756-C
SNPsrs1362756
Merged0
SNP id current1362756
Contextintergenic_variant
Intergenic0
Allele frequency0.29
P value0.00000000002
Pvalue mlog10.698970004336
P value text(EA)
Or beta0.037
%95 Ci[0.025-0.049] unit increase
PlatformAffymetrix, Illumina [~ 2500000] (imputed)
CNVN
Mapped traitoptic disc area measurement
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0006937
Study accessionGCST002765