Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28928910
rs28928910
NEFL
0.810 GeneticVariation BEFREE The cellular pathology observed in hNF-L(E397K) mice differed from that recently reported in hNF-L(P22S) mice, suggesting that overt CMT2E phenotypes may arise through different cellular mechanisms. 21493625

2011
dbSNP: rs28928910
rs28928910
NEFL
A 0.810 CausalMutation CLINVAR

dbSNP: rs28928910
rs28928910
NEFL
0.810 GeneticVariation UNIPROT