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

Fin Swimmer ensembl at need-login.de
Sat Jan 16 09:26:07 GMT 2016


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 the latest rs ids, or it could be that some variants will be withdrawn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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