This track merges variants from six disease-focused or clinically-recruited cohorts into a single bigBed file with predicted protein consequences and cross-database filtering. It -contains 932 million variants from SFARI SPARK (WES + WGS, autism families), TOPMed -(NHLBI heart, lung and blood disease cohorts), SCHEMA (schizophrenia case/control), -GREGoR (rare-disease families), and GA4K (PacBio long-read pediatric rare disease). Where -the source dataset provides per-phenotype counts, those are exposed as separate AC/AF -columns and as filter widgets. +contains 932 million variants from SPARK WES (140k autism families), SFARI WGS (12.5k +autism families), TOPMed (NHLBI heart, lung and blood disease cohorts), SCHEMA +(schizophrenia case/control), GREGoR (rare-disease families), and GA4K (PacBio long-read +pediatric rare disease). Where the source dataset provides per-phenotype counts, those are +exposed as separate AC/AF columns and as filter widgets.
For a summary of all available variant frequency databases, including the population-scale control track and the genotyping-array track, see the SNV Frequencies supertrack page.
Each variant is annotated with its predicted consequence on protein-coding genes (using bcftools csq with Ensembl gene models), and colored by severity. Allele counts and frequencies are shown for each source database and, where available, broken down by phenotype.