Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893985
rs104893985
CYP21A2 ; NEU1
CUI: C3888317
Disease: Sialidosis, type 2
Sialidosis, type 2 		0.010 GeneticVariation BEFREE One patient with a severe, congenital form of type 2 sialidosis was a compound heterozygote for 239C-to-T (P80L) and 718T-to-C (W240R). 11829139

2002