[ensembl-dev] GWAS-catalog result missing

andrew126 at mac.com andrew126 at mac.com
Wed Jan 4 21:27:48 GMT 2017


Hi,

I am using Ensembl API v86, but this appears to be a more general question.

The NHGRI GWAS catalog lists a result for rs1019670 (a result which was added to their catalog 2014-03-14):

https://www.ebi.ac.uk/gwas/search?query=rs1019670 <https://www.ebi.ac.uk/gwas/search?query=rs1019670>

However, neither this result nor the variant is found at ensembl.org.  A search of ensembl.org <http://ensembl.org/> for rs1019670 returns rs7232:

http://useast.ensembl.org/Homo_sapiens/Variation/Explore?r=11:60172626-60173626;v=rs7232;vdb=variation;vf=6894 <http://useast.ensembl.org/Homo_sapiens/Variation/Explore?r=11:60172626-60173626;v=rs7232;vdb=variation;vf=6894>

rs1019670 is listed as an “archive dbDNP” entry for rs7232; however, no phenotype data appear curated for rs7232 at ensembl.org.

Does the superceding of rs1019670 by rs7232 explain why the GWAS-catalog result is not found in Ensembl?  Is there any way that such results could be mapped instead of left out?

Thanks for any information.

Best regards,

Andrew







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