Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376090795
rs376090795
T 0.700 GeneticVariation CLINVAR RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease. 25525159

2015

dbSNP: rs376090795
rs376090795
T 0.700 GeneticVariation CLINVAR Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients. 11153910

2000