Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1114167445
rs1114167445
SPTBN4
T 0.700 CausalMutation CLINVAR A recessive mutation in beta-IV-spectrin (SPTBN4) associates with congenital myopathy, neuropathy, and central deafness. 28540413

2017
dbSNP: rs779027563
rs779027563
CNTNAP1
C 0.700 GeneticVariation CLINVAR Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy. 27668699

2017
dbSNP: rs1057518780
rs1057518780
GJB1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs121913589
rs121913589
MPZ
T 0.700 GeneticVariation CLINVAR

dbSNP: rs28928910
rs28928910
NEFL
A 0.700 CausalMutation CLINVAR