How to classify the SNPs/gene loci as reported or novel?

I have a big list of significant SNPs (>30K) from a GWAS/meta-analysis. Can you please suggest what are some best ways to find the respective gene names and further classify them as already reported and novel ones? Thanks in advance

analysis loci novel meta snps gene reported

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updated 4.7 years ago by Ankit

• written 4.7 years ago by Mahan

1 answer

Use ANNOVAR or wANNOVAR

It annotate using several collection of databases. Assigned ones with rsID and other parameters (1000genome, gnomAD) are known. While unassigned could be novel ones.

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written 4.7 years ago by Ankit

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