Hi. I have found the snps by samtools. I want to know the biological significance or annotation of these snps.? how can i found these snps are involved in any disease ?
Hi. I have found the snps by samtools. I want to know the biological significance or annotation of these snps.? how can i found these snps are involved in any disease ?
Use VEP, Annovar, snpEff, ...
You should provide more details, like which organism (human?), did you perform mapping or de novo assembly, which filters did you apply, and so on.
This is a very general question. More details about your aim would be helpful.
This is why I gave you a more general answer: Use VEP from ensembl. If you have an (rs)ID you can also search directly for it on ensembl. For each variant you can find a "phenotype data" page if data are available, e.g. rs699.
fin swimmer
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Mapping with reference genome