Enter a variant below to see its SpliceAI and Pangolin scores
[more details]

Examples   (on hg38):
chr8-140300616-T-G
chr8   140300616   T   G
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) [show more examples]
Genome version:
Max distance:
SpliceAI-lookup/issues: issues or feature requests for this website

Related web tools:
liftover: for variants/positions/intervals (hg19 <=> hg38 <=> T2T)
CMA search: search OMIM by interval, gene or phenotype
TGG Viewer: igv.js-based web viewer for public reference tracks and, optionally, private data in Google Storage buckets

November 30, 2023
- changed default search settings to "not masked" due to confusion and issues with how masked scores are computed.
- when looking at hg19 variants, the visualization checkboxes now make it clear which IGV.js tracks are or aren't available on hg19.

[show older updates]