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