dbSNP’s human build 150 has doubled the amount of RefSNP records!

dbSNP’s Human Build 150 includes a large number of new submissions from the Human Longevity, Inc. (HLI) and TopMed, increasing the total number of Human RefSNPs in the database from 154 to 324 million. TopMed has also provided new allele frequency data for 163 million RefSNPs.

Human Build 150 Notes:

HLI-submitted data were aligned with the human genome assembly GRCh38. Because dbSNP’s pipeline does not support mapping backward to previous assemblies, the rsIDs for these will not appear in the VCF files for GRCh37. We are investigating mechanisms to map these variants from the GRCh38 to GRCh37 assembly and will provide updates.

TopMed-submitted allele frequencies are available for both GRCh38.p7 and GRCh37.p13 in VCF format on the FTP site with the INFO tag ‘TOPMED’.

Due to the unexpected increase in the volume of human data and limitations in our systems, dbSNP had to take two temporary actions for this release:

  1. The “dbSNP Build 150 (Homo sapiens Annotation Release 108) all data” annotation track for RefSeq genomic sequences will be limited to variants in the gene regions only. This only affect tracks displayed in the NCBI Sequence Viewer and does not impact reporting in dbSNP FTP files or on Reference SNP pages. We are investigating mechanisms to restore complete annotation across the genome and will provide updates.
  2. Entrez searching is currently only available for Human Build 150 and a limited number of organisms from previous builds – including mouse, rat, cow, and pig. We will provide updates over the next two weeks as we restore the search capability for other organisms.

For more information, see the dbSNP-Announce message.

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