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mutation vs snp

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 ?

snp rna-seq
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updated by finswimmer finswimmer • written by fatimarasool135 fatimarasool135

2 answers

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.

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written by h.mon h.mon

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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written by finswimmer finswimmer

i have excel file...in which i have only chromosome number,position of snp ,etc...this excel file not contain any id or genes in which thess snps are known. i want to know the corresponding genes and proteins of snps

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written by fatimarasool135 fatimarasool135

Than VEP is really the place you should go.

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written by finswimmer finswimmer

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