Terminology Service for NFDI4Health
rs201054298
Go to external page
https://www.ncbi.nlm.nih.gov/snp/rs201054298
Term info
Label
rs201054298
has associated disease
Epidermolysis bullosa simplex with pyloric atresia (clinical significance: likely-benign), Epidermolysa bullosa simplex and limb girdle muscular dystrophy (clinical significance: likely-benign), Limb-girdle muscular dystrophy, type 2Q (clinical significance: likely-benign), Epidermolysis bullosa simplex with nail dystrophy (clinical significance: likely-benign), Epidermolysis bullosa simplex, Ogna type (clinical significance: likely-benign)