Gene: CYP21A2 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398123392
rs398123392
CYP21A2 ; NEU1
C 0.710 CausalMutation CLINVAR First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study. 16712870

2006
dbSNP: rs398123392
rs398123392
CYP21A2 ; NEU1
C 0.710 CausalMutation CLINVAR Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. 10767332

2000
dbSNP: rs769765227
rs769765227
CYP21A2 ; NEU1
T 0.700 CausalMutation CLINVAR Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus. 24808020

2014
dbSNP: rs769765227
rs769765227
CYP21A2 ; NEU1
T 0.700 CausalMutation CLINVAR Characterization of the sialidase molecular defects in sialidosis patients suggests the structural organization of the lysosomal multienzyme complex. 10767332

2000
dbSNP: rs754405067
rs754405067
CYP21A2 ; NEU1
G 0.700 CausalMutation CLINVAR