rs200419008, PLCE1

N. diseases: 1
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Nephrosis, congenital
CUI: C3501848
Disease: Nephrosis, congenital
0.010 GeneticVariation BEFREE The genetic evaluation revealed a heterozygous variant in NPHS1 (p.Arg207Trp), in NPHS2 (p.Ser95Phe) as well as in PLCE1 (p.Ala1045Ser) and did not explain CNS. 29663071 2018