rs1799990, PRNP

N. diseases: 23
Disease: Sporadic CJD ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Sporadic CJD
CUI: C4310512
Disease: Sporadic CJD
0.030 GeneticVariation BEFREE As expected, methionine and valine homozygosity at PRNP M129V increased significantly the risk of sCJD, alone and adjusted by PRNP G310C (OR MM/MV = 7.3; 95%CI 3.9 to 13.5 and OR VV/MV = 4.0; 95%CI 1.7 to 9.3). 21600043 2011
Sporadic CJD
CUI: C4310512
Disease: Sporadic CJD
0.030 GeneticVariation BEFREE No significant difference in M129V polymorphism was found between sCJD with and without PFHD. 17822808 2009
Sporadic CJD
CUI: C4310512
Disease: Sporadic CJD
0.030 GeneticVariation BEFREE Recently, a molecular classification of sporadic CJD based on the M129V genotype in conjunction with other determinants was proposed. 11897368 2002