Why does dbSNP show each submitted SNP having its own genotype and frequency information? Isn’t this is an over-representation of the number of unique SNPs with these particular attributes?
Although several submitted SNPs are grouped within a single refSNP cluster, each submitted SNP of that cluster can have different sequence data. We capture genotypes on the submitted SNP level to preserve this underlying sequence data, which was used to design the assay for the SNP in question (probes, primers, etc.). When the information is available, Build 126 will have probe identifiers for HapMap genotypes that refer to an Entrez Probe record associated with the individual genotypes.
Related Questions
- dbSNP’s "Validation status description" states that one mode of validation is "Validation by Frequency or Genotype data". What is the difference between a validation by frequency or by geneotype?
- Does dbSNP use the summary of genotypes table to produce the submitted frequency table, or vice versa?
- Does dbSNP accept SNP submissions for species other than human?
