Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28942073
rs28942073
HEXB
0.010 GeneticVariation BEFREE In summary, H235Y is the first mutation in the β-sheet of the (β/α)₈-barrel domain of the β-subunit that abolishes α-β and β-β dimer formation; the presented patient is the second patient to exhibit the motor neuron disease phenotype with P417L and a non-functional allele of HEXB. 23127958

2013