Question: A Catalog Of Functional Snps?
gravatar for Avariant
7.0 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 • 1.7k views
ADD COMMENTlink written 7.0 years ago by Avariant40
gravatar for Pierre Lindenbaum
7.0 years ago by
France/Nantes/Institut du Thorax - INSERM UMR1087
Pierre Lindenbaum119k wrote:


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

ADD COMMENTlink modified 6.9 years ago by Istvan Albert ♦♦ 80k • written 7.0 years ago by Pierre Lindenbaum119k
Please log in to add an answer.


Use of this site constitutes acceptance of our User Agreement and Privacy Policy.
Powered by Biostar version 2.3.0
Traffic: 759 users visited in the last hour