Study: Genome-wide association study identifies genetic variants influencing F-cell levels in sickle-cell patients. [PMID:21326311]
First author: Bhatnagar P
Journal: J Hum Genet
Date: 02/17/2011
Phenotype: F-cell distribution
Study population: 440 African ancestry individuals
Association P-value: 6 x 10-06
Odds ratio [95% confidence interval]: 1.20 [0.69-1.71] unit increase
Gene: ATP6V0A4
Risk allele: C
Minor allele frequency (controls): 0.13
rs3800569
Position: chr7:138,411,425
(Open in UCSC Genome Browser)
Distance to nearest TSS: 47,634 bp
GENCODE v7 location: Intron
RegulomeDB Score: 5b - DNaseI-seq peak (Open in RegulomeDB)
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
A project of the Center for Genomics and Personalized Medicine at Stanford University.
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