I would like to find some examples of the different types of SNP (e.g. missense, nonsense, stop gained/lost, splice site) that are associated with a particular disease and where the mechanism by which the SNP confers pathogenicity has been elucidated. I would really like the 'famous' examples if such a think exists - like the SNP equivalents of the philadelphia chromosome. If i search medline for 'non synonymous snp' or the like you can imagine how many results i get! I couldnt restrict an OMIM search to SNPs. I tried SNPedia as they only report interesing SNPs but that doesn't necessarily mean the molecular mechanism of the disease is known.
Can you offer any tips for finding well-characterized FUNCTIONAL SNPs? Or please can you share any examples you may know of. It would be much appreciated