How To Read The Ncbi Summary To Confirm Existing Identified Number Of Snps?
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9.5 years ago
Fayue1015 ▴ 200

Please read following linke and help me explain the existing identified SNPs in human beings?

http://www.ncbi.nlm.nih.gov/SNP/snp_summary.cgi

snp ncbi • 1.5k views
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Please improve this question. Are you asking how SNPs are identified, in general?

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I am asking for exmaple "Number of RefSNP Clusters" means that there are total 53,558,214 SNPs identified in human beings?

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9.5 years ago
Joachim ★ 2.9k

Have a read through the very detailed Wikipedia article about dbSNP: http://en.wikipedia.org/wiki/DbSNP

A little bit more detailed information about dbSNP entries can be found through NCBI: http://www.ncbi.nlm.nih.gov/books/NBK44374/

Submitted information about SNPs (assay records) are assigned a "ss..." identifiers. Submissions that fall on the same genomic location are accumulated in SNP clusters that are assigned "rs..." identifiers.

Are there 53,558,214 locations for SNPs in human beings? Well, probably not. The number you gave also concerns clusters that have not been validated (What exactly does it mean when a SNP is validated), where the number of non-computationally verified or SNPs with frequency information is already lower: 38,077,993 (from the same web-page link you gave). However, since dbSNP SNP clusters can also loose their validation status, this number might go up or down in the future -- depending on the scrutiny of researchers as further data becomes available.

Hope that helps.

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