I'm looking for all possible sources of clinically tested human SNPs. There is a handful of databases that store SNPs (like dbSNP), but I only need those that have validated presence/absence of phenotypic effects with some additional metadata. Thank you in advance.
Just to make this post a tiny bit more useful, I must add that there are several additional sources I've found:
- UniProt has an open dataset called
- ClinVar database
- HGMD database
- A paper with a manually collected database based on recent publications in Nature Genetics.
Different datasets intersect to some extent, but all in all you get over 200k somewhat validated SNPs.