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README.md Update README.md Apr 24, 2018

README.md

ANNOUNCEMENT: dbSNP Human Build 151 Double in Size to 660 Million Reference SNP (rs)

April 24, 2018

REMINDER: Important dbSNP changes and notifications

https://www.ncbi.nlm.nih.gov/mailman/pipermail/dbsnp-announce/2018q2/000186.html

dbSNP human build 151 for both GRCh38.p7 and GRCh37.p13 assemblies is now available. This build include new submissions from TopMed (https://www.nhlbi.nih.gov/research/resources/nhlbi-precision-medicine-initiative/topmed) and GnomAD (http://gnomad.broadinstitute.org/about) which more than double the number of available dbSNP reference SNP (rs) from 324 million to 660 million. Allele frequency data are available for more than 500 million rs (see summary below) with most being rare (MAF < =0.001).

Build Summary:

dbSNP ID Build Total
Total Submitted SNP (ss) - redundant 1,803,358,848
Total Reference SNP (rs) - non-redundant 660,773,127
Genomic mapping GRCh37.p13 GRCh38.p7
Assembly 648,992,551 660,440,048
Refseq Annotation GRCh37.p13 GRCh38.p7
Gene ID 30,194 38,811
mRNA Accession 106,113 163,679
Protein Accession 82,936 115,774
Function Class GRCh37.p13 GRCh38.p7
CDS-INDEL 273,510 313,439
CDS-SYNON 3,366,422 3,650,883
FRAMESHIFT 411,981 424,833
INTRON 250,243,824 348,938,103
MISSENSE 6,938,964 7,506,129
NCRNA 5,669,033 13,602,650
NEARGENE-3 3,818,163 6,400,653
NEARGENE-5 15,808,046 25,853,318
SPLICE-3 95,699 117,225
SPLICE-5 111,212 141,498
STOP-GAIN 244,372 279,741
STOP-LOSS 10,913 13,661
UTR-3 6,129,919 8,668,133
UTR-5 2,419,529 4,640,915

RS Allele Frequency Counts:

Minor Allele Frequency (MAF) TOPMED GnomAD 1000 Genomes ExAC GO-ESP
<=0.001 470,535,424 198,960,749 54,686,241 8,667,575 1,527,303
>0.001 and <=0.01 20,069,273 15,967,086 15,944,038 276,851 197,816
>0.01 and <0.1 11,410,633 7,940,223 7,852,416 99,605 99,694
>=0.1 8,225,418 5,799,895 6,365,867 85,773 63,191
Total RS with Frequency 510,240,748 228,667,953 84,848,562 9,129,804 1,888,004

Entrez Search

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

FTP

		GRCh37.p13
		[ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606_b151_GRCh37p13](ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606_b151_GRCh37p13)


		GRCh38.p7
		[ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606_b151_GRCh38p7](ftp://ftp.ncbi.nih.gov/snp/organisms/human_9606_b151_GRCh38p7)

Please email snp-admin@ncbi.nlm.nih.gov for any questions, suggestions, and comments.

Regards,

dbSNP Production Team