Gene: NPHS1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs386833945
rs386833945
NPHS1 ; KIRREL2
A 0.700 GeneticVariation CLINVAR

dbSNP: rs386833895
rs386833895
NPHS1
0.010 GeneticVariation BEFREE Here, we have characterized a novel nephrin sequence variant, A419T, which is expressed along with C623F in a patient presenting with CNS. 30212551

2018
dbSNP: rs778552202
rs778552202
NPHS1 ; KIRREL2
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
dbSNP: rs962888148
rs962888148
NPHS1
0.010 GeneticVariation BEFREE Here, we have characterized a novel nephrin sequence variant, A419T, which is expressed along with C623F in a patient presenting with CNS. 30212551

2018
dbSNP: rs763972372
rs763972372
NPHS1
0.010 GeneticVariation BEFREE The novel splice site mutation of IVS11+1G>A and a missense mutation at c.928G>A in NPHS1 were found to cause CNS in this Chinese child. 25729976

2015