| Population reference |
SNV Frequencies: variants in ~1.5 million individuals from population cohorts and unaffected or control arms |
| Disease cohorts | SNV Frequencies: variants in ~130,000 affected or case individuals (autism, schizophrenia, rare disease cohorts) |
| Genotyping Array Databases Combined | SNV Frequencies: Genotyping-array cohorts combined (TPMI, Mexico Biobank, UK Biobank imputed) |
| 12 Afr Pops 180 WGS | SNV Frequencies: 180 WGS from 12 Indigenous African Populations (Fan 2023) |
| AllOfUs v7 245k WGS | SNV Frequencies: AllOfUs v7 - 245k WGS, local-ancestry-stratified, AC>=20 |
| Australia MGRB 4k WGS | SNV Frequencies: Australia Medical Genome Reference Bank - 4,011 WGS |
| Brazil ABraOM 1k WGS | SNV Frequencies: ABraOM Brazil - 1,171 unrelated individuals |
| China ChinaMAP 10.5k WGS | SNV Frequencies: ChinaMAP phase 1 - 10,588 WGS at ~40x, Chinese natural population |
| China WBBC 4.5k WGS | SNV Frequencies: Westlake BioBank for Chinese - 4,480 WGS, 4 regional Han groups |
| CoLoRSdb 1k LR SNV/Ind | SNV Frequencies: CoLoRSdb v1.2.0 - 1,027 PacBio HiFi WGS, SNV/indel callset |
| FinnGen R12 500k imputed | SNV Frequencies: Finland FinnGen - 500k samples, arrays, imputation used 8.5k WGS |
| GA4K 552 PacBio LR | SNV Frequencies: GA4K Children's Mercy - 552 PacBio HiFi WGS, pediatric RD |
| GenomeAsia 1.7k Indels | SNV Frequencies: GenomeAsia Pilot - Indels |
| GenomeAsia 1.7k SNVs | SNV Frequencies: GenomeAsia Pilot - Substitutions |
| gnomAD HGDP+1kG 4k WGS | SNV Frequencies: gnomAD HGDP + 1000 Genomes - 4,094 WGS, 80 populations |
| GREGoR R4 3.6k WGS | SNV Frequencies: GREGoR Consortium - Release 4, 3,624 WGS samples, rare disease families |
| HRC 30k WGS | SNV Frequencies: Haplotype Reference Consortium - 30k WGS (excl. 1000 Genomes) |
| India GenomeIndia 9.7k WGS | SNV Frequencies: GenomeIndia - 9,768 WGS, 83 populations (Bhattacharyya 2025) |
| India IndiGenomes 1k WGS | SNV Frequencies: IndiGenomes India - 1,029 samples |
| Japan ToMMo 61k WGS | SNV Frequencies: Japan 61k - ToMMo SNV+Indels |
| Korea KOVA 5.3k mixed | SNV Frequencies: KOVA Korea - 5305 samples, 1.9k WGS+3.4k WES |
| Mexico Biobank 6k Array | SNV Frequencies: Mexico Biobank - 6,011 individuals, genotyping array |
| NCBI ALFA 408k mixed | SNV Frequencies: NCBI ALFA (dbGaP data) - 408k mixed WGS/WES/array, 163M variants |
| Netherlands GoNL 498 WGS | SNV Frequencies: Genome of the Netherlands - 250 Dutch trios |
| NHLBI TOPMed 10 151k WGS | SNV Frequencies: NHLBI TOPMed - 151k WGS |
| Saudi Genome 302 WGS | SNV Frequencies: Saudi Genome Project - 302 WGS samples |
| SCHEMA 121k WES Sz | SNV Frequencies: SCHEMA Schizophrenia Exome Meta-Analysis - WES 24k cases, 97k controls |
| SFARI SPARK 12k WGS | SNV Frequencies: SFARI SPARK - 12,519 WGS |
| SFARI SPARK 140k WES | SNV Frequencies: SFARI SPARK - 140k WES |
| SGDP 279 WGS | SNV Frequencies: Simons Genome Diversity Project - 279 WGS, 142 populations |
| Singapore NPM 9.7k WGS | SNV Frequencies: NPM Singapore - 9,770 WGS samples |
| SVatalog 101 WGS | SNV Frequencies: GWAS SVatalog - 101 samples, 10X Genomics linked-read SNPs |
| Sweden SweGen 1k WGS | SNV Frequencies: Sweden SweGen - 1k WGS |
| Taiwan TPMI Axiom array | SNV Frequencies: Taiwan Precision Medicine Initiative - Axiom TPM1 chip, Han Chinese |
| UK Biobank 361k imputed | SNV Frequencies: UK Biobank Genotypes - 361k White British, Neale Lab Round 2 imputed |