RBM20
RBM20 is a gene catalogued in the canine genome. Below are the inherited conditions OMIA links to it in dogs, its human counterpart, and its canonical records across the genomics world.
The inherited conditions OMIA associates with RBM20 in dogs. Each links to the full record.
RBM20 as it is catalogued across the genomics world. Each link is the canonical record, so this gene composes with everything those resources know.
In humans, this gene's counterpart is RBM20. That ortholog is what connects RBM20 to a century of human medical genetics. The dog and human proteins are 86% identical.
In people, RBM20 rarely tolerates loss-of-function variation (gnomAD v4.1 constraint, LOEUF 0.57), a sign it does important, dosage-sensitive work.
In people, variants in the RBM20 gene have conflicting classifications in ClinVar, and none is expert-reviewed. The evidence is unsettled, not that variants here are benign.
Dog and human evidence are symmetric here, a validated cross-species footprint. Coverage, not importance. D = 1 dog vs H = 1 human cited disease channels.
Lookup and discovery are candidate-framed research surfaces. Classification renders AVCG grades we cite; Sniff does not score variants with a model of its own.
Per-breed allele frequencies across the atlas are surfaced for the trait loci Sniff has verified a direction-of-effect for. For RBM20 we show the cited identity and disease associations, and we would rather show you exactly that than a frequency we cannot yet interpret honestly. See the gene catalog for trait loci with frequency views and every disease-linked gene page.
Gene identity and disease associations are grounded in OMIA (CC-BY) and the open Sniff Atlas. Full citation formats at sniff.world/cite.