Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs140511594
rs140511594
TTC21B ; TTC21B-AS1
0.020 GeneticVariation BEFREE We identified a novel TTC21B mutation demonstrating that p.P209L is not the unique causative mutation of this nephropathy. 26940125

2017
dbSNP: rs140511594
rs140511594
TTC21B ; TTC21B-AS1
0.020 GeneticVariation BEFREE Altogether, these data suggest that this homozygous TTC21B p.P209L mutation leads to a novel hereditary kidney disorder with both glomerular and tubulointerstitial damages. 24876116

2014