Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28933385
rs28933385
PRNP
A 0.800 CausalMutation CLINVAR

dbSNP: rs74315401
rs74315401
PRNP
T 0.800 CausalMutation CLINVAR

dbSNP: rs74315403
rs74315403
PRNP
A 0.800 CausalMutation CLINVAR

dbSNP: rs74315402
rs74315402
PRNP
T 0.750 CausalMutation CLINVAR

dbSNP: rs74315409
rs74315409
PRNP
G 0.730 CausalMutation CLINVAR

dbSNP: rs80356710
rs80356710
PRNP
G 0.730 CausalMutation CLINVAR

dbSNP: rs11538758
rs11538758
PRNP
T 0.720 CausalMutation CLINVAR

dbSNP: rs74315405
rs74315405
PRNP
C 0.720 CausalMutation CLINVAR

dbSNP: rs74315407
rs74315407
PRNP
A 0.720 CausalMutation CLINVAR

dbSNP: rs74315413
rs74315413
PRNP
G 0.720 CausalMutation CLINVAR

dbSNP: rs74315414
rs74315414
PRNP
A 0.720 CausalMutation CLINVAR

dbSNP: rs74315414
rs74315414
PRNP
T 0.720 CausalMutation CLINVAR

dbSNP: rs74315411
rs74315411
PRNP
G 0.710 CausalMutation CLINVAR

dbSNP: rs193922906
rs193922906
PRNP
CGGTGGTGGCTGGGGGCAGCCTCATGGTGGTGGCTGGGGGCAGCCTCAT 0.700 CausalMutation CLINVAR

dbSNP: rs74315406
rs74315406
PRNP
G 0.700 CausalMutation CLINVAR

dbSNP: rs74315412
rs74315412
PRNP
A 0.700 CausalMutation CLINVAR

dbSNP: rs80356711
rs80356711
PRNP
T 0.700 CausalMutation CLINVAR

dbSNP: rs74315408
rs74315408
PRNP
A 0.740 CausalMutation CLINVAR Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Sträussler syndrome. 8461023

1993
dbSNP: rs11538758
rs11538758
PRNP
0.720 GeneticVariation BEFREE A new inherited prion disease (PrP-P105L mutation) showing spastic paraparesis. 8250529

1993
dbSNP: rs28933385
rs28933385
PRNP
0.800 GeneticVariation BEFREE These data argue that the E200K mutation alone is sufficient to cause prion disease and does so in an age-dependent manner. 8529127

1995
dbSNP: rs74315405
rs74315405
PRNP
0.720 GeneticVariation BEFREE Our findings suggest that brain extracts from GSS F198S disease contain 3 prominent nonglycosylated PK-resistant PrP fragments forming a pattern not previously described in other prion diseases, which may in part explain the pathology of this GSS disease variant. 8939199

1996
dbSNP: rs28933385
rs28933385
PRNP
0.800 GeneticVariation BEFREE We analysed PrP27-30 glycotypes in a large number of TSE-affected patients: 50 sporadic CJD (sCJD), 1 iatrogenic CJD, 1 Gerstmann-Sträussler-Scheinker syndrome (GSS) with the Pro102Leu mutation of PrP, 3 familial CJD (fCJD) with the Glu200Lys mutation and, for the first time, 7 fCJD with the Val210ll3e mutation. 10483920

1999
dbSNP: rs74315401
rs74315401
PRNP
0.800 GeneticVariation BEFREE We analysed PrP27-30 glycotypes in a large number of TSE-affected patients: 50 sporadic CJD (sCJD), 1 iatrogenic CJD, 1 Gerstmann-Sträussler-Scheinker syndrome (GSS) with the Pro102Leu mutation of PrP, 3 familial CJD (fCJD) with the Glu200Lys mutation and, for the first time, 7 fCJD with the Val210ll3e mutation. 10483920

1999
dbSNP: rs74315402
rs74315402
PRNP
0.750 GeneticVariation BEFREE Inherited prion disease with an alanine to valine mutation at codon 117 in the prion protein gene. 10506086

1999
dbSNP: rs11538758
rs11538758
PRNP
0.720 GeneticVariation BEFREE An inherited prion disease with a PrP P105L mutation: clinicopathologic and PrP heterogeneity. 10408557

1999