[dbsnp-announce] dbSNP Human Build 154 Release + ALFA data

[Public announcements regarding dbSNP]

dbSNP Human Build 154 Release

https://www.ncbi.nlm.nih.gov/snp/



This release includes the new ALFA (https://www.ncbi.nlm.nih.gov/snp/docs/gsr/alfa/) RefSNP (rs) and allele frequency.



BUILD SUMMARY

==============

Build 154 Total RS count = 729,491,867

https://ftp.ncbi.nih.gov/snp/redesign/latest_release/release_notes.txt



BUILD RELEASE PRODUCTS

==================

  *   dbSNP search

     *   Entrez: https://www.ncbi.nlm.nih.gov/snp/

     *   Help: https://www.ncbi.nlm.nih.gov/snp/docs/entrez_help/



  *   FTP download in VCF and JSON format

https://ftp.ncbi.nih.gov/snp/redesign/latest_release/

  *   RefSNP Page

https://www.ncbi.nlm.nih.gov/snp/rs268

  *   Variation Viewer

(https://www.ncbi.nlm.nih.gov/variation/view/)

  *   Variation Service API

https://api.ncbi.nlm.nih.gov/variation/v0/



NEW FEATURES:

===============

  *   dbSNP search now support HGVS and protein variant search.

     *   HGVS: https://www.ncbi.nlm.nih.gov/snp/?term=NM_000237.3%3Ac.1421C%3EG

     *   Protein variation search: https://www.ncbi.nlm.nih.gov/snp/?term=Ser474Ter, for more precise result include the Gene encoding the protein https://www.ncbi.nlm.nih.gov/snp/?term=Ser474Ter%20AND%20LPL



  *   Refsnp page linked to Litvar information

(https://www.ncbi.nlm.nih.gov/snp/docs/refsnp_report/helpdoc/#Summary).



  *   Filter and facet to retrieve all SNPs with ALFA frequency (https://www.ncbi.nlm.nih.gov/snp/docs/entrez/refsnp_change/#update05252020)







HELP RESOURCES:

===============

Webinar Videos:

  *   NCBI Minute: ALFA Webinar (https://youtu.be/wii-V39YxGk)

  *   Accessing Population Allele Frequency<https://www.youtube.com/watch?v=5CzjOI3-qOU> (https://www.youtube.com/watch?v=5CzjOI3-qOU)

  *   SPDI and Variation Service<https://www.youtube.com/watch?v=gpSI16e59ig> (https://www.youtube.com/watch?v=gpSI16e59ig)





Search Help: https://www.ncbi.nlm.nih.gov/snp/docs/entrez_help/

About RefSNP: https://www.ncbi.nlm.nih.gov/snp/docs/RefSNP_about

VCF FAQ: https://www.ncbi.nlm.nih.gov/variation/docs/snp2_human_variation_vcf/

JSON Spec: https://github.com/ncbi/dbsnp/blob/master/specs/refsnp_specification.yaml

JSON Tutorials: https://github.com/ncbi/dbsnp/tree/master/tutorials

dbSNP RefSNP page: https://ncbiinsights.ncbi.nlm.nih.gov/2017/09/12/ncbi-newly-designed-dbsnp-refsnp-report-alpha/



Please email snp-admin at ncbi.nlm.nih.gov for any questions and comments.



Regards,



dbSNP Team







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