Linking Disease Associations with Regulatory Information in the Human Genome - Companion website
Marc A. Schaub, Alan P. Boyle, Anshul Kundaje, Serafim Batzoglou, Michael Snyder, Stanford University

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rs8079702

Associations

Study: Genome-wide association study reveals multiple loci associated with primary tooth development during infancy. [PMID:20195514]
First author: Pillas D
Journal: PLoS Genet
Date: 02/26/2010
Phenotype: Primary tooth development (number of teeth)
Study population: 5,752 European descent related individuals
Association P-value: 1 x 10-14
Odds ratio [95% confidence interval]: 1.15 [NR] % variance explained
Gene: KCNJ2 - CALM2P1
Risk allele: G
Minor allele frequency (controls): 0.39

Study: Genome-wide association study reveals multiple loci associated with primary tooth development during infancy. [PMID:20195514]
First author: Pillas D
Journal: PLoS Genet
Date: 02/26/2010
Phenotype: Primary tooth development (time to first tooth eruption)
Study population: 5,919 European descent related individuals
Association P-value: 4 x 10-22
Odds ratio [95% confidence interval]: 1.62 [NR] % variance explained
Gene: KCNJ2 - CALM2P1
Risk allele: G
Minor allele frequency (controls): 0.39

Lead SNP

rs8079702
Position: chr17:68,190,826 (Open in UCSC Genome Browser)
Distance to nearest TSS: 1,103,534 bp
GENCODE v7 location: Intergenic region
RegulomeDB Score: 6 - Motif (Open in RegulomeDB)

Linkage disequilibrium region

Linkage disequilibrium threshold:
 - In all HapMap 2 populations: r2≥0.8 r2≥0.9 r2=1.0 
 - In the HapMap 2 CEU population r2≥0.8 r2≥0.9 r2=1.0 

No SNPs found for this LD threshold.




Credits:
This resource uses data from:
 - The NHGRI GWAS catalog (accessed August 10, 2011)
 - The ENCODE project
 - RegulomeDB
 - The HapMap project

Contact: marc.schaub AT cs.stanford.edu
Last modified: 2011-12-15 01:19:24
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