SNP Detail For rs13064954
1.Mapping Information
Human SNP ID rs13064954
Human chromosome chr3
Human SNP position 157136953
Pig chromosome chr13
Pig SNP position 105133450
2.Annotation Information
PubMed ID21441570
JournalHum Mol Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/21441570
StudyGenome-wide meta-analysis for severe diabetic retinopathy.
Disease/TraitDiabetic retinopathy
Initial sample973 European ancestry cases, 1,856 European ancestry controls
Replication sampleNA
Region3q25.31
Chromosome idchr3
Chromosome position157136953
Reported geneLEKR1, CCNL1
Mapped geneLINC00880 - CCNL1
Upstream gene id339894
Downstream gene id57018
SNP gene ids
Upstream gene distance13951
Downstream gene distance9411
SNP risk allelers13064954-G
SNPsrs13064954
Merged0
SNP id current13064954
Contextregulatory_region_variant
Intergenic1
Allele frequency0.04
P value0.0000007
Pvalue mlog6.15490195998574
P value text
Or beta1.02
%95 Ci[NR]
PlatformAffymetrix, Illumina [2543887] (imputed)
CNVN
Mapped traitdiabetic retinopathy
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0003770
Study accessionGCST001017
PubMed ID21685187
JournalThorax
Linkwww.ncbi.nlm.nih.gov/pubmed/21685187
StudyGenome-wide association study of smoking behaviours in patients with COPD.
Disease/TraitSmoking cessation in chronic obstructive pulmonary disease
Initial sample1,907 European ancestry former smoker cases, 1,164 European ancestry current smoker cases
Replication sampleNA
Region3q25.31
Chromosome idchr3
Chromosome position157136953
Reported geneCCNL1
Mapped geneLINC00880 - CCNL1
Upstream gene id339894
Downstream gene id57018
SNP gene ids
Upstream gene distance13951
Downstream gene distance9411
SNP risk allelers13064954-A
SNPsrs13064954
Merged0
SNP id current13064954
Contextregulatory_region_variant
Intergenic1
Allele frequency0.05
P value0.000005
Pvalue mlog5.30102999566398
P value text
Or beta1.94
%95 Ci
PlatformIllumina [~ 6300000] (imputed)
CNVN
Mapped traitchronic obstructive pulmonary disease, smoking cessation
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000341, http://www.ebi.ac.uk/efo/EFO_0004319
Study accessionGCST001108