Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1321552081
rs1321552081
Entrez Id: 23163;79902
Gene Symbol: GGA3;NUP85
GGA3;NUP85
CUI: C4748545
Disease:
NEPHROTIC SYNDROME, TYPE 17
C 0.700 GeneticVariation CLINVAR Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome. 30179222 2018
dbSNP: rs1321552081
rs1321552081
Entrez Id: 23163;79902
Gene Symbol: GGA3;NUP85
GGA3;NUP85
CUI: C4748545
Disease:
NEPHROTIC SYNDROME, TYPE 17
C 0.700 CausalMutation CLINVAR