Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28940884
rs28940884
GALE
0.010 GeneticVariation BEFREE The remainder (G90E, V94M, D103G, L183P, K257R, L313M and R335H) are all impaired in turnover number (k cat) and specificity constant (k cat/Km), with G90E and V94M (which is associated with the generalized form of galactosemia) being the most affected. 16302980

2005