Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1990622
rs1990622
0.700 GeneticVariation GWASDB Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 22210626

2012

dbSNP: rs3851179
rs3851179
0.700 GeneticVariation GWASDB Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 22210626

2012

dbSNP: rs6116477
rs6116477
0.700 GeneticVariation GWASDB Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 22210626

2012

dbSNP: rs744373
rs744373
0.700 GeneticVariation GWASDB Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 22210626

2012

dbSNP: rs3764650
rs3764650
0.700 GeneticVariation GWASDB Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 22210626

2012

dbSNP: rs10509125
rs10509125
0.700 GeneticVariation GWASCAT Genome-wide association study of behavioural and psychiatric features in human prion disease. 25897833

2015

dbSNP: rs10994443
rs10994443
0.700 GeneticVariation GWASDB Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 22210626

2012

dbSNP: rs4538475
rs4538475
0.700 GeneticVariation GWASDB Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 22210626

2012

dbSNP: rs3849942
rs3849942
0.700 GeneticVariation GWASDB Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 22210626

2012

dbSNP: rs2814707
rs2814707
0.700 GeneticVariation GWASDB Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 22210626

2012

dbSNP: rs372805579
rs372805579
0.020 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: rs372805579
rs372805579
0.020 GeneticVariation BEFREE We next looked into brain samples from E200K patients and found that both PK resistant PrPs, PrP(ST) as in TgMHu2ME199K mice, and "classical" PrP(Sc) as in infectious prion diseases, coincide in the patient's post mortem brains. 23922744

2013

dbSNP: rs368821179
rs368821179
0.010 GeneticVariation BEFREE An inherited prion disease with a PrP P105L mutation: clinicopathologic and PrP heterogeneity. 10408557

1999

dbSNP: rs12817488
rs12817488
0.700 GeneticVariation GWASDB Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 22210626

2012

dbSNP: rs9349407
rs9349407
0.700 GeneticVariation GWASDB Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 22210626

2012

dbSNP: rs3865444
rs3865444
0.700 GeneticVariation GWASDB Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 22210626

2012

dbSNP: rs1016726
rs1016726
0.700 GeneticVariation GWASDB Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 22210626

2012

dbSNP: rs11136000
rs11136000
CLU
0.700 GeneticVariation GWASDB Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 22210626

2012

dbSNP: rs1473972013
rs1473972013
0.010 GeneticVariation BEFREE Genetic Creutzfeldt-Jakob disease (gCJD) with E200K mutation is one of the common subtypes of human genetic prion diseases worldwide. 30755683

2019

dbSNP: rs11767557
rs11767557
0.700 GeneticVariation GWASDB Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 22210626

2012

dbSNP: rs767181086
rs767181086
0.010 GeneticVariation BEFREE Genetic Creutzfeldt-Jakob disease (gCJD) with E200K mutation is one of the common subtypes of human genetic prion diseases worldwide. 30755683

2019

dbSNP: rs393152
rs393152
0.700 GeneticVariation GWASDB Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 22210626

2012

dbSNP: rs947211
rs947211
0.700 GeneticVariation GWASDB Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 22210626

2012

dbSNP: rs1188539174
rs1188539174
0.010 GeneticVariation BEFREE Inherited prion diseases (IPDs), including genetic Creutzfeldt-Jakob disease (gCJD), account for 10-15% of cases of prion diseases and are associated with several pathogenic mutations, including P102L, V180I, and E200K, in the prion protein gene (PRNP). 27341347

2016

dbSNP: rs597668
rs597668
0.700 GeneticVariation GWASDB Genome-wide association study in multiple human prion diseases suggests genetic risk factors additional to PRNP. 22210626

2012