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SNPs do not signify anything about the functionality of a particular piece of DNA. You can think of a SNP as just a sign that says "hey, something in my neighborhood might be interesting!!" In this respect many GWAS SNPs are so-called "tag SNPs", that have been selected specifically to give the minimal number of SNPs that can be linked to ...


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Quick answer is yeah, the G is the "reference allele" as you put it. The greater than symbol is acting as an arrow, ie, G goes to C, that is, G is replaced with C. Actually you get a pretty clear indication of that if you look down a line it two where it mentions the frequency: C=0.000419 (104/247982, GnomAD_exome) C=0.000494 (62/125568, TOPMED) C=0....


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Most or all consumer DNA companies doing autosomal SNP tests deliver their raw data (at least by default) based on human reference genome build 37 (GRCh37). This is effectively the standard for this arena because it is compatible with existing files and other companies, allowing matching and other processing. dbSNP and SNPedia have changed to use the next ...


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@WYSIWYG is correct, but in view of the brevity of his answer (and a second answer contradicting him) I provide chapter and verse. The definition of RefSNP reference number is given by NCBI as: “A reference SNP ID number, or “rs” ID, is an identification tag assigned by NCBI to a group (or cluster) of SNPs that map to an identical location.” It is ...


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DNA has a "sense" strand and an antisense strand. The sense strand for that gene is the one you care about when discussing SNPs in that gene, because its the one being transcribed (and, as a result, the one affecting the organism). For more information about sense and antisense strands, there are some pretty good explanatory youtube videos and Wikipedia ...


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