Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894625
rs104894625
0.810 GeneticVariation UNIPROT A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. 15205993

2004

dbSNP: rs104894625
rs104894625
0.810 GeneticVariation UNIPROT HNPP due to a novel missense mutation of the PMP22 gene. 12796555

2003

dbSNP: rs104894625
rs104894625
0.810 GeneticVariation UNIPROT A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts. 9748013

1998

dbSNP: rs104894625
rs104894625
A 0.810 CausalMutation CLINVAR

dbSNP: rs104894623
rs104894623
0.800 GeneticVariation UNIPROT A novel PMP22 mutation Ser22Phe in a family with hereditary neuropathy with liability to pressure palsies and CMT1A phenotypes. 15205993

2004

dbSNP: rs104894623
rs104894623
0.800 GeneticVariation UNIPROT HNPP due to a novel missense mutation of the PMP22 gene. 12796555

2003

dbSNP: rs104894623
rs104894623
0.800 GeneticVariation UNIPROT A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts. 9748013

1998

dbSNP: rs104894623
rs104894623
T 0.800 CausalMutation CLINVAR

dbSNP: rs104894619
rs104894619
A 0.750 CausalMutation CLINVAR

dbSNP: rs377335295
rs377335295
0.710 GeneticVariation UNIPROT

dbSNP: rs587776691
rs587776691
A 0.700 CausalMutation CLINVAR

dbSNP: rs80338763
rs80338763
GC 0.700 CausalMutation CLINVAR