Data downloads

The datasets behind the site, as JSON. Built entirely on public sources (1000 Genomes, PGS Catalog, gnomAD, AlphaMissense) — see the methods for how each was computed and its limitations.

Reuse is welcome; a formal open-data license (CC BY 4.0) and a versioned/DOI release are being set up. Until then, please cite as below and email if you plan to build on it.

Allele frequencies (SAS vs EUR)

Effect-allele frequencies for curated variants across the 5 South-Asian 1000G subpopulations (PJL/GIH/BEB/ITU/STU) plus SAS/EUR/EAS/AFR/AMR super-populations.

1000 Genomes phase 3

↓ JSON

PRS mis-stratification

Per-PGS × per-population mean-shift (SD) and mis-stratification % (share above the European top-10% cutoff) for 6 polygenic scores.

PGS Catalog + 1000G analytical mean-shift

↓ JSON

India whitespace ranking

The two-tier research-gap score over all 1,648 diseases: burden × South-Asian mis-calibration × tractability, with every component score and the per-lead why/study/learn.

D2I2 (see methods)

↓ JSON

Rare-pathogenic SAS leads

AlphaMissense-pathogenic missense variants observed in South Asians, flagged for European-absent and ClinVar-uncertain reclassification candidates.

MyVariant.info (AlphaMissense/dbNSFP) × gnomAD

↓ JSON

Variant pathogenicity

AlphaMissense / SIFT / PolyPhen predictions and SAS-vs-EUR enrichment for the curated variant panel.

MyVariant.info / dbNSFP

↓ JSON

Plain-language lexicon

1,049 medical terms with plain + student-level definitions — the accessibility layer, reusable on its own.

D2I2

↓ JSON

How to cite

D2I2: Decoding Disease in India. India Whitespace Score and genomic transferability atlas. d2i2.org (accessed 2026-07-11).