Gene: PRNP ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933385
rs28933385
PRNP
A 0.900 CausalMutation CLINVAR

dbSNP: rs74315408
rs74315408
PRNP
A 0.900 CausalMutation CLINVAR

dbSNP: rs74315407
rs74315407
PRNP
A 0.870 CausalMutation CLINVAR

dbSNP: rs398122370
rs398122370
PRNP
C 0.830 CausalMutation CLINVAR

dbSNP: rs776593792
rs776593792
PRNP
0.730 GeneticVariation UNIPROT

dbSNP: rs193922906
rs193922906
PRNP
CGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCAT 0.700 CausalMutation CLINVAR

dbSNP: rs28933385
rs28933385
PRNP
0.900 GeneticVariation BEFREE Creutzfeldt-Jakob disease profile in patients homozygous for the PRNP E200K mutation. 10665501

2000
dbSNP: rs28933385
rs28933385
PRNP
0.900 GeneticVariation BEFREE Creutzfeldt-Jakob disease (CJD) in Libyan Jews, linked to the E200K mutation in PRNP (E200KCJD), is the most prevalent of the inherited prion diseases. 11259483

2001
dbSNP: rs74315412
rs74315412
PRNP
0.750 GeneticVariation BEFREE Creutzfeldt-Jakob disease in a patient with an R208H mutation of the prion protein gene (PRNP) and a 17-kDa prion protein fragment. 15739100

2005
dbSNP: rs74315412
rs74315412
PRNP
0.750 GeneticVariation BEFREE Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene. 15753435

2005
dbSNP: rs74315403
rs74315403
PRNP
0.800 GeneticVariation BEFREE D178N, 129Val and N171S, 129Val genotype in a family with Creutzfeldt-Jakob disease. 21071944

2010
dbSNP: rs74315408
rs74315408
PRNP
0.900 GeneticVariation BEFREE V180I CJD is an interesting form of genetic CJD with regards to the clinicopathologic, molecular and genetic findings. 21269331

2011
dbSNP: rs1800014
rs1800014
PRNP
0.070 GeneticVariation BEFREE A Chinese Creutzfeldt-Jakob disease patient with E196K mutation in PRNP. 21597335

2012
dbSNP: rs28933385
rs28933385
PRNP
0.900 GeneticVariation UNIPROT A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. 7902693

1993
dbSNP: rs74315408
rs74315408
PRNP
0.900 GeneticVariation UNIPROT A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. 7902693

1993
dbSNP: rs74315407
rs74315407
PRNP
0.870 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 A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. 7902693

1993
dbSNP: rs74315403
rs74315403
PRNP
0.800 GeneticVariation UNIPROT A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. 7902693

1993
dbSNP: rs74315409
rs74315409
PRNP
0.770 GeneticVariation UNIPROT A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. 7902693

1993
dbSNP: rs74315412
rs74315412
PRNP
0.750 GeneticVariation UNIPROT A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease. 7902693

1993
dbSNP: rs28933385
rs28933385
PRNP
0.900 GeneticVariation BEFREE A novel phenotype of familial Creutzfeldt-Jakob disease (CJD) with mutated codon 200 of the prion protein gene (PRNP) coupled with the valine codon 129 (E200K-129V haplotype) has two features never observed in subjects carrying the pathogenic mutation coupled with the methionine codon 129 (E200K-129M haplotype): (1) plaque-like prion protein (PrP) deposits in the cerebellum and (2) type 2 protease-resistant prion protein (PrP(res)). 10360778

1999
dbSNP: rs1799990
rs1799990
PRNP
0.900 GeneticVariation BEFREE A total of 616 chromosomes from control individuals of all major continental groups, and six individuals affected by either Creutzfeldt-Jakob disease (CJD) or fatal familial insomnia (FFI), were typed with a new single-reaction protocol method and were also sequenced, with total reproducibility to screen variation at important positions (385A>G: M129V and 655G>A: E219K) in the human prion protein gene (PRNP). 12815603

2003
dbSNP: rs1800014
rs1800014
PRNP
0.070 GeneticVariation BEFREE A total of 616 chromosomes from control individuals of all major continental groups, and six individuals affected by either Creutzfeldt-Jakob disease (CJD) or fatal familial insomnia (FFI), were typed with a new single-reaction protocol method and were also sequenced, with total reproducibility to screen variation at important positions (385A>G: M129V and 655G>A: E219K) in the human prion protein gene (PRNP). 12815603

2003
dbSNP: rs74315403
rs74315403
PRNP
0.800 GeneticVariation BEFREE Accumulation of an isoform of protease-resistant PrP fragment in FFI distinct from that found in a familial form of Creutzfeldt-Jakob disease with the same D178N mutation, shows the effect of the polymorphism at codon 129 of PRNP on phenotypic expression and the possibility of distinct prion "strains" with diverse pathological potential. 12849238

2003
dbSNP: rs28933385
rs28933385
PRNP
0.900 GeneticVariation BEFREE Age at Death of Creutzfeldt-Jakob disease in subsequent family generation carrying the E200K mutation of the prion protein gene. 23565236

2013