Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140511594
rs140511594
A 0.710 CausalMutation CLINVAR Notably, tubular basement membrane thickening reminiscent of that observed in nephronophthisis was present in patients with FSGS and the p.P209L mutation. 24876116

2014

dbSNP: rs140511594
rs140511594
0.710 GeneticVariation BEFREE Notably, tubular basement membrane thickening reminiscent of that observed in nephronophthisis was present in patients with FSGS and the p.P209L mutation. 24876116

2014

dbSNP: rs140511594
rs140511594
A 0.710 CausalMutation CLINVAR TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341

2011

dbSNP: rs1553508246
rs1553508246
C 0.700 GeneticVariation CLINVAR TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. 21258341

2011

dbSNP: rs1553506530
rs1553506530
A 0.700 CausalMutation CLINVAR