Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1564634581
rs1564634581
PDZD7
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		C 0.700 CausalMutation CLINVAR

dbSNP: rs587776894
rs587776894
PDZD7 ; SFXN3
CUI: C1848634
Disease: USHER SYNDROME, TYPE IIA
USHER SYNDROME, TYPE IIA 		CG 0.700 SusceptibilityMutation CLINVAR