Question: A Catalog Of Functional Snps?
gravatar for Avariant
8.5 years ago by
Avariant40 wrote:

HI all,

Many of us are familiar with the cataloging of SNPs (from GWAS) associating with various disease related phenotypes ( They provide some nice info on the increase of GWAS studies published, and the number of SNPs identified, over the last few years.

I have been looking for a similar database or resource that provides a survey and/or estimate of the number of SNPs that 1) associate with a disease related phenotype and 2) also have in-vitro/ex-vivo experimental data supporting a functional role or mechanism in the alteration of the trait.

I'd like to see the difference, visually, between the two (GWAS SNPs vs SNPs with functional support) but I can't, since to my knowledge there is no resource cataloging variants with functional evidence.

So, I thought I'd ask if anyone here knows of such a resource, or a quick way that I might get an estimate?


database functional snp • 2.0k views
ADD COMMENTlink written 8.5 years ago by Avariant40
gravatar for Pierre Lindenbaum
8.5 years ago by
France/Nantes/Institut du Thorax - INSERM UMR1087
Pierre Lindenbaum130k wrote:


you'll find some files mapping dbSNP to pubmed and dbSNP to OMIM

ADD COMMENTlink modified 8.4 years ago by Istvan Albert ♦♦ 84k • written 8.5 years ago by Pierre Lindenbaum130k
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