What is the most important type of single nucleotide polymorphism relating to disease?
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4.0 years ago

I know that there are different types of SNPs (https://en.wikipedia.org/wiki/Single-nucleotide_polymorphism#/media/File:Types_of_SNP_new1.png ) what is the most important type of single nucleotide polymorphism when we want to study its relation to diseases? Also, what are type of SNP to study when we want to find the relation between it and protein domain?

SNP disease • 656 views
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Hello , I think that the most important type of single nucleotide polymorphism when we want to study its relation to diseases is Non sense SNPs because this one stop the process of amino acid translation and consequently the synthesis of the proteins which means the absent of the function

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Thanks for your great appreciated reply. Yes, I found that here, (https://pediaa.com/wp-content/uploads/2018/11/Difference-Between-Nonsense-and-Missense-Mutation-Comparison-Summary.jpg). In that comparison, Non-sense SNPs produces a nonfunctional protein, but Missense SNPs also produces either nonfunctional or functional (but with a different function, which may introduce diseases as I understand) So, I am a little bit confused between * Non-sense SNPs* and Missense SNPs. because I am trying to use this data from UniProt (https://ftp.expasy.org/databases/uniprot/current_release/knowledgebase/variants/humsavar.txt) and in that file, they are using only the Missense SNPs, So, I am wondering, Why did they include only Missense SNPs and ignored the other types !!

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