[ensembl-dev] Differences of ExAC data on Ensembl and the ExAC Homepage

[Sarah Hunt]

Hi Fin,

Thanks for confirming this.

As you may know, we do maintain a GRCh37 database - it is not updated as 
frequently as the GRCh38  database but it does have the ExAC data from 
dbSNP144. For example, rs759080255 is available here:

http://grch37.ensembl.org/Homo_sapiens/Variation/Population?db=core;r=13:23929517-23930517;v=rs759080255;vdb=variation;vf=79006210

Best wishes,

Sarah

On 16/01/2016 09:26, Fin Swimmer wrote:
> Hello Sarah,
> thank you for your answer. I sended an email directly to ExAC. That 
> was the answer:
>
>> Hello!
>> rs759080255 is new as of dbSNP 144, while ExAC is annotated up to 
>> dbSNP 142. We recommend searching by chromosome and position for best 
>> results.
> So it is like you guess. The ExAC site has not been updated with the 
> latest rs ids. But searching by chromosome and position working well. 
> One must only consider that Ensembl uses GRCh38 while ExAC still uses 
> GRCh37.
>
> fin swimmer
>
> Am 13.01.2016 um 12:16 schrieb Sarah Hunt:
>>
>> Hi Fin,
>>
>> We import these frequencies from the ExAC submissions to dbSNP. You 
>> can see the dbSNP record for rs759080255 here:
>>
>> http://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?searchType=adhoc_search&type=rs&rs=rs759080255 
>>
>>
>> I don't know why the same information is not available through the 
>> ExAC site. It could be that the ExAC site has not been updated with 
>> the latest rs ids, or it could be that some variants will be 
>> withdrawn from dbSNP, though this is less likely.
>>
>> Best wishes,
>>
>> Sarah
>
>
>
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