Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893972
rs104893972
CYP21A2 ; NEU1
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		C 0.800 CausalMutation CLINVAR

dbSNP: rs104893978
rs104893978
CYP21A2 ; NEU1
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		G 0.800 CausalMutation CLINVAR

dbSNP: rs104893980
rs104893980
CYP21A2 ; NEU1
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		G 0.800 CausalMutation CLINVAR

dbSNP: rs104893985
rs104893985
CYP21A2 ; NEU1
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		A 0.800 CausalMutation CLINVAR

dbSNP: rs104893984
rs104893984
CYP21A2 ; NEU1
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		T 0.700 CausalMutation CLINVAR

dbSNP: rs104893986
rs104893986
CYP21A2 ; NEU1 ; SLC44A4
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		T 0.700 CausalMutation CLINVAR

dbSNP: rs864309513
rs864309513
CYP21A2 ; NEU1
CUI: C4282398
Disease: Sialidase deficiency
Sialidase deficiency 		C 0.700 CausalMutation CLINVAR