dbSNP153 catalogs 702 million mostly rare short genetic variants across hg38 genome.
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dbSNP build 153 maps 667 million distinct variants to hg38. Most variants are rare, not true polymorphisms. Common subtrack has 15 million variants with MAF at least 1% in 1000 Genomes. ClinVar subtrack includes 455,000 variants, both benign and pathogenic. Mult subtrack flags variants mapping to multiple chromosomes. Map Err subtrack has 149,000 inconsistent mappings in hg38. Reference genome allele is rare in 160,827 hg38 sites. Reference genome allele never observed in populations at 50,927 hg38 sites. TOPMED data from 60,000 individuals: 52% European, 31% African ancestry. 1000 Genomes covers 2,504 individuals from 26 populations. GnomAD exomes: 125,748 from 14 populations. MultiMap affects 132,123 hg38 variants. 124 million common variants in all projects for hg38. Rare variants dominate with 682 million in all projects for hg38. dbSNP grew exponentially from next-generation sequencing. Flanking sequences no longer provided due to VCF format dominance.

Genetics Science Demographics Health

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