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Disclaimer- The information provided here is for educational purposes, I am not a medical professional nor a genetics professional. While I can describe some of the things I have learned and researched, each individual is different and what worked for me may not work for you.

Working with dbSnp

dbSNP: https://www.ncbi.nlm.nih.gov/snp This is a free government website where you can research each SNP (Single Nucleotide Polymorphism Database). It is a bit overwhelming so check out this introduction at http://www.ncbi.nlm.nih.gov/projects/SNP/docs/rs_attributes.html In the old fomrat the pathogenic SNP's have colored alerts on them. You will need the RS number to enter into the search box. Dbsnp has recently undergone a makeover. The old version can still be accessed for now by a link "Switch to Classic Site" in the upper left corner of the page that lists the SNP information. The samples I provided below are in the old format. I liked the colored chart of populations in the old version that are now missing in the new version and I still refer to the old version but it did need a facelift.

Sample of dbSNP in a PDF format I have attempted to point out the most important parts for those of us that are not geneticist. The red boxes and comments point out where to look. The notes I added to the pdf do not show up in some PDF viewers and you may have to download the file to see them. I also contacted dbSNP personnel and found an important fact to know. The MAF - Minor Allele Frequency is always reported on the positive or plus strand configuration. This is important when trying to decipher those C to G changes or the A to T changes in the SNP.

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