Tools & data
Resources
Open-source tools and data to help anyone determine the significance of a genetic variant.
Open-source tools and data to help anyone determine the significance of a genetic variant.
Genomic medicine wants a yes/no answer to a nuanced question. At VariantBrowser.org we present a data-driven estimate of disease penetrance for KCNQ1, KCNH2, SCN5A and RYR2, with the carrier counts, functional data and predictors behind it in searchable tables.
Heuristically, what a variant’s 3D location, in vitro function and in silico predictors tell you is roughly equivalent to phenotyping 10–20 heterozygotes. Methods: PLOS Genetics 2020, Circ Genom Precis Med 2021, Genetics in Medicine 2023, Circ Genom Precis Med 2026.
Long QT type 1
4,386 variants
Long QT type 2
7,995 variants
Brugada / LQT3
13,739 variants
CPVT
29,236 variants
LLM-driven discovery and extraction of per-variant carrier and phenotype evidence from PubMed, with source sentences retained for audit.
Structured extraction of gene, variant and phenotype data from the published record.
Aggregates AlphaMissense, REVEL, CADD, ClinVar and gnomAD into one queryable SQLite database.
Deep mutational scanning of KCNH2/Kv11.1 trafficking: perturbation data for thousands of variants.
Brugada-syndrome penetrance from NaV1.5 (SCN5A) functional, structural and sequence features.
Predicting functional perturbation in KV7.1 (KCNQ1) and NaV1.5 (SCN5A) from structure and sequence.
Carrier data and penetrance estimates for CPVT-associated RyR2 variants.
Patient- and variant-specific features for severe cardiac event risk in long QT syndrome.
The Bayesian penetrance estimator, AlphaFold structural-proximity analysis, the ClinGen gene–disease curation app, and the iPSC-CM extracellular field-potential analyzer (Sci Rep 2025).