Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs398122370
rs398122370
PRNP
0.830 GeneticVariation UNIPROT Conformational diversity in prion protein variants influences intermolecular beta-sheet formation. 19927125

2010
dbSNP: rs398122370
rs398122370
PRNP
0.830 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs398122370
rs398122370
PRNP
0.830 GeneticVariation BEFREE The E211Q mutation has been identified in family members, but not in 97 sporadic CJD patients referred to the Italian registry of CJD nor in 205 healthy normal subjects, suggesting a pathogenic role for this mutation. 11568919

2001
dbSNP: rs398122370
rs398122370
PRNP
0.830 GeneticVariation BEFREE Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype. 10790216

2000
dbSNP: rs398122370
rs398122370
PRNP
0.830 GeneticVariation UNIPROT Identification of three novel mutations (E196K, V203I, E211Q) in the prion protein gene (PRNP) in inherited prion diseases with Creutzfeldt-Jakob disease phenotype. 10790216

2000
dbSNP: rs398122370
rs398122370
PRNP
0.830 GeneticVariation BEFREE The goodness of this method is demonstrated in the analysis of three sporadic CJD patients with different genotypes at codon 129 and three inherited cases bearing different point mutations of PRNP: the Pro102Leu mutation linked to Gerstmann-Sträussler-Scheinker-syndrome, the Val210Ile mutation and a novel mutation at codon 211 (Gln211Glu) both associated to familial CJD. 10936643

2000
dbSNP: rs398122370
rs398122370
PRNP
0.830 GeneticVariation UNIPROT Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease. 8909447

1996
dbSNP: rs398122370
rs398122370
PRNP
0.830 GeneticVariation UNIPROT Japanese family with Creutzfeldt-Jakob disease with codon 200 point mutation of the prion protein gene. 7906019

1994
dbSNP: rs398122370
rs398122370
PRNP
0.830 GeneticVariation UNIPROT Mutation in codon 200 and polymorphism in codon 129 of the prion protein gene in Libyan Jews with Creutzfeldt-Jakob disease. 7913755

1994
dbSNP: rs398122370
rs398122370
PRNP
0.830 GeneticVariation UNIPROT Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome. 8461023

1993
dbSNP: rs398122370
rs398122370
PRNP
0.830 GeneticVariation UNIPROT A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. 7902693

1993
dbSNP: rs398122370
rs398122370
PRNP
0.830 GeneticVariation UNIPROT Fatal familial insomnia and familial Creutzfeldt-Jakob disease: disease phenotype determined by a DNA polymorphism. 1439789

1992
dbSNP: rs398122370
rs398122370
PRNP
0.830 GeneticVariation UNIPROT New mutation in scrapie amyloid precursor gene (at codon 178) in Finnish Creutzfeldt-Jakob kindred. 1671440

1991
dbSNP: rs398122370
rs398122370
PRNP
0.830 GeneticVariation UNIPROT Mutation in codon 200 of scrapie amyloid protein gene in two clusters of Creutzfeldt-Jakob disease in Slovakia. 1975028

1990
dbSNP: rs398122370
rs398122370
PRNP
C 0.830 CausalMutation CLINVAR