SNP Detail For rs12696304
1.Mapping Information
Human SNP ID rs12696304
Human chromosome chr3
Human SNP position 169763483
Pig chromosome chr13
Pig SNP position 117008753
2.Annotation Information
PubMed ID21573004
JournalPLoS One
Linkwww.ncbi.nlm.nih.gov/pubmed/21573004
StudyGenome-wide association study of relative telomere length.
Disease/TraitTelomere length
Initial sample3,554 European ancestry individuals
Replication sample2,460 European ancestry individuals
Region3q26.2
Chromosome idchr3
Chromosome position169763483
Reported geneTERC
Mapped geneSDHDP3 - TERC
Upstream gene id29771
Downstream gene id7012
SNP gene ids
Upstream gene distance52905
Downstream gene distance1127
SNP risk allelers12696304-G
SNPsrs12696304
Merged0
SNP id current12696304
Contextdownstream_gene_variant
Intergenic1
Allele frequency0.27
P value0.00000000000002
Pvalue mlog13.698970004336
P value text
Or beta0.03
%95 Ci[0.02-0.04] unit decrease
PlatformIllumina [2608509] (imputed)
CNVN
Mapped traittelomere length
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004505
Study accessionGCST001068
PubMed ID20139977
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/20139977
StudyCommon variants near TERC are associated with mean telomere length.
Disease/TraitTelomere length
Initial sample2,917 European ancestry individuals
Replication sample9,492 European ancestry individuals
Region3q26.2
Chromosome idchr3
Chromosome position169763483
Reported geneTERC
Mapped geneSDHDP3 - TERC
Upstream gene id29771
Downstream gene id7012
SNP gene ids
Upstream gene distance52905
Downstream gene distance1127
SNP risk allelers12696304-G
SNPsrs12696304
Merged0
SNP id current12696304
Contextdownstream_gene_variant
Intergenic1
Allele frequency0.3
P value0.00000000000004
Pvalue mlog13.397940008672
P value text
Or beta0.11
%95 Ci[0.08-0.14] unit decrease
PlatformAffymetrix [405649]
CNVN
Mapped traittelomere length
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0004505
Study accessionGCST000586
PubMed ID26237428
JournalNat Genet
Linkwww.ncbi.nlm.nih.gov/pubmed/26237428
StudyGenome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma.
Disease/TraitCutaneous malignant melanoma
Initial sample12,874 European ancestry cases, 23,203 European ancestry controls
Replication sample785 European ancestry cases, 791 European ancestry controls, 2,331 cases, 2,415 controls
Region3q26.2
Chromosome idchr3
Chromosome position169763483
Reported geneTERC
Mapped geneSDHDP3 - TERC
Upstream gene id29771
Downstream gene id7012
SNP gene ids
Upstream gene distance52905
Downstream gene distance1127
SNP risk allelers12696304-G
SNPsrs12696304
Merged0
SNP id current12696304
Contextdownstream_gene_variant
Intergenic1
Allele frequency0.27
P value0.0000003
Pvalue mlog6.52287874528033
P value text
Or beta0.092
%95 Ci[NR] unit decrease
PlatformAffymetrix, Illumina [at least 1569314] (imputed)
CNVN
Mapped traitcutaneous melanoma
Mapped trait URIhttp://www.ebi.ac.uk/efo/EFO_0000389
Study accessionGCST003061