Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs767181086
rs767181086
LAMC2
0.050 GeneticVariation BEFREE This is the largest study on E200K gCJD patients in China, which would benefit to the knowledge of E200K gCJD. 30755683

2019
dbSNP: rs767181086
rs767181086
LAMC2
0.050 GeneticVariation BEFREE FFI, T188K gCJD and E200K were the three most common subtypes. 26488179

2015
dbSNP: rs767181086
rs767181086
LAMC2
0.050 GeneticVariation BEFREE Three clinical phenotypes were seen: rapidly progressive Creutzfeldt-Jakob disease (CJD), which included 100% of E200K cases, 70% of M232R, and 21% of P102L; slowly progressive CJD, which included 100% of V180I and 30% of M232R; and Gerstmann-Sträussler-Scheinker disease, which included 100% of P105L and 79% of P102L. 23555862

2013
dbSNP: rs767181086
rs767181086
LAMC2
0.050 GeneticVariation BEFREE The CJD patient who was first reported in China has a missense mutation in codon 200 (E200K) of the PRNP, and the codon 129 is a methionine homozygous genotype. 20514992

2010
dbSNP: rs767181086
rs767181086
LAMC2
0.050 GeneticVariation BEFREE We show here that this is also true for patients with E200K CJD, but not for healthy carriers of the mutation. 9270603

1997