<p> <b>rs ID</b></p><p>dbSNP reference SNP identifier.</p><p> <b>EA Allele Count</b></p><p>The observed allele counts for the listed alleles in European American population. (delimited by /).</p><p> <b>AA Allele Count</b></p><p>The observed allele counts for the listed alleles in African American population. (delimited by /).</p><p> <b>Allele Count</b></p><p>The observed allele counts for the listed alleles in all populations. (delimited by /).</p><p> <b>MAF (%) (EA/AA/All):</b></p><p>the minor-allele frequency in percent listed in the order of European American (EA), African American(AA) and all populations (All). (delimited by /).</p
<p>Abbreviations: f<sub>CEU</sub>: frequency of modeled allele in HapMap Northern and Western Europe...
Exome sequencing has revealed the causative mutations behind numerous rare, inherited disorders, but...
<div><p>Exome sequencing has revealed the causative mutations behind numerous rare, inherited disord...
<p>*MAF<5% in at least one pool.</p><p>EA = European American, AA = African American, MAF = minor al...
<p>The SNP <i>rs4751440</i> allele frequency and genotypes were calculated based on Exome Sequencing...
<p>1 – Variant allele freq (VAF) in 117 UK SLIC probands is estimated by Syzygy using the proportion...
Recent studies have shown that a high proportion of rare variants in European and African population...
*<p>MAF, minor allele frequency in the HapMap;</p>**<p>CEU population; EA, European American; AA, Af...
<p>Frequency data for SNPs in CFTR (<u>Panel A</u>) or NF1 (<u>Panel B</u>) were collated for each o...
<p>Minor allele frequency in the African American HCM cohort, African American controls and individu...
<p>* Exome Aggregation Consortium (<a href="http://exac.broadinstitude.org/" target="_blank">http://...
Popoolation output file containing the read count data for polymorphic sites. The first column is th...
<p>rs no, NCBI Reference SNP (rs) Number, an identification tag assigned by NCBI to SNPs.</p><p>Chr,...
<p>Allele frequencies of the studied SNPs in our population and in the NCBI database.</p
<p>N, the number of subjects.</p>*<p>1000 Genomes. <a href="http://browser.1000genomes.org/Homo_sapi...
<p>Abbreviations: f<sub>CEU</sub>: frequency of modeled allele in HapMap Northern and Western Europe...
Exome sequencing has revealed the causative mutations behind numerous rare, inherited disorders, but...
<div><p>Exome sequencing has revealed the causative mutations behind numerous rare, inherited disord...
<p>*MAF<5% in at least one pool.</p><p>EA = European American, AA = African American, MAF = minor al...
<p>The SNP <i>rs4751440</i> allele frequency and genotypes were calculated based on Exome Sequencing...
<p>1 – Variant allele freq (VAF) in 117 UK SLIC probands is estimated by Syzygy using the proportion...
Recent studies have shown that a high proportion of rare variants in European and African population...
*<p>MAF, minor allele frequency in the HapMap;</p>**<p>CEU population; EA, European American; AA, Af...
<p>Frequency data for SNPs in CFTR (<u>Panel A</u>) or NF1 (<u>Panel B</u>) were collated for each o...
<p>Minor allele frequency in the African American HCM cohort, African American controls and individu...
<p>* Exome Aggregation Consortium (<a href="http://exac.broadinstitude.org/" target="_blank">http://...
Popoolation output file containing the read count data for polymorphic sites. The first column is th...
<p>rs no, NCBI Reference SNP (rs) Number, an identification tag assigned by NCBI to SNPs.</p><p>Chr,...
<p>Allele frequencies of the studied SNPs in our population and in the NCBI database.</p
<p>N, the number of subjects.</p>*<p>1000 Genomes. <a href="http://browser.1000genomes.org/Homo_sapi...
<p>Abbreviations: f<sub>CEU</sub>: frequency of modeled allele in HapMap Northern and Western Europe...
Exome sequencing has revealed the causative mutations behind numerous rare, inherited disorders, but...
<div><p>Exome sequencing has revealed the causative mutations behind numerous rare, inherited disord...