rs16990018, PRNP

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Prion Diseases
CUI: C0162534
Disease: Prion Diseases
0.010 GeneticVariation BEFREE The N171S PrP polymorphism is found mainly in humans of African descent, but its low incidence has precluded study of its possible influence on prion disease. 21980292 2011
Creutzfeldt-Jakob disease
CUI: C0022336
Disease: Creutzfeldt-Jakob disease
0.010 GeneticVariation BEFREE D178N, 129Val and N171S, 129Val genotype in a family with Creutzfeldt-Jakob disease. 21071944 2010
Hippocampal sclerosis
CUI: C1504404
Disease: Hippocampal sclerosis
0.010 GeneticVariation BEFREE The authors previously reported a rare polymorphism at codon 171 (Asn-->Ser) of human Prnp to be associated with mesial temporal lobe epilepsy related to hippocampal sclerosis. 15304595 2004
Epilepsy, Temporal Lobe
CUI: C0014556
Disease: Epilepsy, Temporal Lobe
0.010 GeneticVariation BEFREE The authors previously reported a rare polymorphism at codon 171 (Asn-->Ser) of human Prnp to be associated with mesial temporal lobe epilepsy related to hippocampal sclerosis. 15304595 2004
Seizures
CUI: C0036572
Disease: Seizures
0.010 GeneticVariation BEFREE However, patients carrying the Asn171Ser variant had a five times higher chance of continuing to have seizures after temporal lobectomy (95% CI 1.65 to 17.33, p = 0.005) than those carrying the normal allele. 14610121 2003