Dataset ID
NHA000207
- Type of data
- allele counts and frequencies of 526,270 SNPs about general population living in Okinawa Prefecture
- Access criteria
- Unrestricted-access
- Total data volume
- 28.7 MB
- File formats
- XLSX
- ZIP
- Research
- hum0496
- Date published
- 2026-02-27
- Date modified
- 2026-02-27
- Secondary ID
- hum0496.v2.freq.v1
Unrestricted-access files linked to this dataset
| File | Label | Size | Copy URL |
|---|---|---|---|
| hum0496.v2.freq.v1.xlsx | Dictionary file | 10.0 KB | |
| hum0496.v2.freq.v1.zip | 28.7 MB |
Analysis method
Genotyping by array
- Materials and participants
- General Population living in Okinawa Prefecture n=10,135
Ryukyu Cluster (n = 8,715)
Hondo Cluster (n = 1,420) - Health statusHealthy
- Subject count10,135 (Individual)
- CohortOkinawa Biobank
- PopulationHondo, Ryukyu
- Sample description
- DNAs extracted from peripheral blood or saliva
- TissuePeripheral blood, Saliva
- Tumor / normalNormal
- Sample provider
- N/A
- Experimental method
- Genotyping by array
- Target
- N/A
- Reagent kit
- Infinium Asian Screening Array Kit
- Platform
- Illumina Infinium Asian Screening Array
- Reference genome
- GRCh38
- QC and filtering
- QC1. Genotyping QC (Exclusion Criteria)
SNP call rate < 0.98
pHWE < 1×10−6
Sample call rate < 0.98
SNPs not included in the latest manifest file (ASA-24v1-0_E2.csv)
QC2. Blast QC
All Top Genomic Seq sequences listed in the Illumina Manifest file were blasted against the GRCh38 database, and non-single map SNPs were excluded.
QC3. Other Exclusion Criteria
(i) SNPs with ≥3 genotype mismatches, based on comparison with WGS (in-house) genotypes for 158 samples.
(ii) SNPs with an allele frequency difference ≥ 0.1, based on comparison between the Ryukyu cluster and in-house WGS data (n = 273).
(iii) SNPs with an allele frequency difference ≥ 0.05, based on comparison between the Hondo cluster and ToMMo 54k.
(iv) SNPs with an allele frequency difference ≥ 0.1, based on comparison between the Hondo cluster and 1KG30xJPT
Note 1) (iii) was applied to SNPs that were not assessed in (i) and (ii).
(iv) was applied to SNPs that were not assessed in (i), (ii), and (iii).
Note 2) SNPs not applied in (i) through (iv) due to absence of genotype data of in-house WGS data or allele frequency data in external database, are flagged as "NoCheck" in the table. - Analysis method
- GenCall software (GenomeStudio)
- Variant count
- 526,270 SNPs (When including the 22,635 SNPs marked "NoCheck" by the other exclusion criteria above, file name: OBi_FreqTable_20251226_QC_relaxed.tsv)
503,635 SNPs (When excluding the 22,635 SNPs marked "NoCheck" by the other exclusion criteria above, file name: OBi_FreqTable_20251226_QC_default.tsv) - Processed data type
- Allele frequency
- Data use policy
- NBDC data sharing policy (JGAP000001)