paperKB
coga / coga-kb
Help
Sign in

Chunk #10 — Results — Variance explained by SNPs at different significance levels

Source
Defining the role of common variation in the genomic and biological architecture of adult human height.
Embedded
yes

Text

of variance explained by all the HapMap3 (ref. 11) SNPs without SNP selection was ~50% (Table 1), consistent with previous estimates4,5. Thus, a group of ~9,500 SNPs (representing <1% of common SNPs) selected at P<5×10−3, explained ~29% of phenotypic variance. Since ~50% of phenotypic variance is explained by all common SNPs, the selected set of SNPs, despite being limited to <1% of common SNPs, accounts for the majority of variance attributable to all common SNPs (29/50 ~ 60%). This set of ~9,500 SNPs strongly clustered with the newly established height loci: 1,704 (19%) variants were located within 250kb of one of the 697 genome-wide associated SNPs, suggesting that a substantial fraction of “missing heritability” is within already identified loci. This clustering of additional variants within identified loci was confirmed in a parallel analysis based on two left-out studies where we observed that SNPs in closer physical proximity with the top associated SNPs explained disproportionally more variance (Online Methods and Supplementary Fig. 6).