[ensembl-dev] No MAF but Frequency in 1000Genomes

Sarah Hunt seh at ebi.ac.uk
Fri Jun 17 10:03:26 BST 2016


Hi Fin,

We import the global MAF dbSNP calculates from the 1000 genomes phase 3 
genotypes but display population frequencies and genotypes from the 100 
genomes VCF files. These discrepancies occur when dbSNP does not hold a 
1000 genomes MAF.

Best wishes,

Sarah


On 17/06/2016 08:36, Fin Swimmer wrote:
> Hello,
> I was looking for some SNPs in MFAP5 Gene (ENSG00000197614). I'm 
> wondering why there many SNPs without a MAF but having relevant 
> frequencies in 1000Genomes? For example rs12303273 or rs2289382.
>
> fin swimmer
>
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