Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587776894
rs587776894
Entrez Id: 79955;81855
Gene Symbol: PDZD7;SFXN3
PDZD7;SFXN3
CUI: C4693893
Disease:
DEAFNESS, AUTOSOMAL RECESSIVE 57 		CG 0.700 CausalMutation CLINVAR
dbSNP: rs587776894
rs587776894
Entrez Id: 79955;81855
Gene Symbol: PDZD7;SFXN3
PDZD7;SFXN3
CUI: C1848634
Disease:
USHER SYNDROME, TYPE IIA 		CG 0.700 SusceptibilityMutation CLINVAR