Hi,
Looking at WES data I noticed that certain SNPs are not available in the population database (gnomAD/ExAC), but that there is a SNP associated. Looking up the SNP in the dbSNP gives us a relatively high MAF, extracted from ExAC, but I don't find it in the population database ExAC.
E.g. the MAF of rs201848360 is 1.5% (according to note extracted from ExAC), but when I look into ExAC or gnomAD the SNP seems to be absent from the general population. I have similar findings for the other SNPs.
Could you please explain us how this is possible? Trying to classify a variant as pathogenic or benign it makes a big difference of the variant is absent from the general population or present in 1.5% of the population.
Thank you in advance.
Hi, Looking at WES data I noticed that certain SNPs are not available in the population database (gnomAD/ExAC), but that there is a SNP associated. Looking up the SNP in the dbSNP gives us a relatively high MAF, extracted from ExAC, but I don't find it in the population database ExAC. E.g. the MAF of rs201848360 is 1.5% (according to note extracted from ExAC), but when I look into ExAC or gnomAD the SNP seems to be absent from the general population. I have similar findings for the other SNPs. Could you please explain us how this is possible? Trying to classify a variant as pathogenic or benign it makes a big difference of the variant is absent from the general population or present in 1.5% of the population. Thank you in advance.