Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894623
rs104894623
PMP22
CUI: C0393814
Disease: Hereditary liability to pressure palsies
Hereditary liability to pressure palsies 		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
PMP22
CUI: C0393814
Disease: Hereditary liability to pressure palsies
Hereditary liability to pressure palsies 		0.800 GeneticVariation UNIPROT HNPP due to a novel missense mutation of the PMP22 gene. 12796555

2003
dbSNP: rs104894623
rs104894623
PMP22
CUI: C0393814
Disease: Hereditary liability to pressure palsies
Hereditary liability to pressure palsies 		0.800 GeneticVariation UNIPROT A novel PMP22 point mutation causing HNPP phenotype: studies on nerve xenografts. 9748013

1998
dbSNP: rs104894623
rs104894623
PMP22
CUI: C0393814
Disease: Hereditary liability to pressure palsies
Hereditary liability to pressure palsies 		T 0.800 CausalMutation CLINVAR