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

Fin Swimmer ensembl at need-login.de
Fri Jun 17 10:34:54 BST 2016


Hi Sarah,
thank you for your explanation. So I cannont rely on the MAF data only, 
but also have to check whether there are frequencies from the 
1000Genomes.

fin swimmer

Am 2016-06-17 11:03, schrieb Sarah Hunt:
> 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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