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Fig. 2 | Human Genomics

Fig. 2

From: Architecture of polymorphisms in the human genome reveals functionally important and positively selected variants in immune response and drug transporter genes

Fig. 2

Potentially functional SNVs. a Percentage of human genes containing a different number of pfSNVs. b Average numbers of pfSNVs with different potential functions in each transcript. c Percentage of SNVs with rare alleles (DAF < 0.05) amongst the pfSNVs and nfSNVs in the same genic regions, as determined in HapMap individuals from African (AFR), Asian (ASN) and European (EUR) population groups. d Percentage of pfSNVs or nfSNVs under RPS over all pf- or nfSNVs in that specific group. e Percentage of SNVs with different functions amongst all the RPS pfSNVs. pf, potentially functional; nf, non-functional; TFBS, SNVs that alter transcription factor binding sites; del ns, potentially deleterious nsSNV; ESE/ESS, SNVs that alter exon splice enhancers/silencers; ISRE, SNVs that alter intronic splicing regulatory elements; miRBS, SNVs that alter miRNA binding sites

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Human Genomics

ISSN: 1479-7364