A Catalog Of Functional Snps?
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Entering edit mode
13.3 years ago
Avariant ▴ 40

HI all,

Many of us are familiar with the cataloging of SNPs (from GWAS) associating with various disease related phenotypes (http://www.genome.gov/gwastudies/). 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?

Thanks!!

snp functional snp database • 2.7k views
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Entering edit mode
13.3 years ago

in

ftp://ftp.ncbi.nih.gov/snp/Entrez/eLinks/

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

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