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rs74315403(A;G)

From SNPedia

PrP D178N pathogenic mutation - leads to CJD or FFI
Is agenotype
ofrs74315403
GenePRNP
Chromosome20
Position4,699,752
mentionedby
Magnitude4
ReputeBad
Geno Mag Summary
(A;G) 4 PrP D178N pathogenic mutation - leads to CJD or FFI
(G;G) 0 PrP codon 178 (D) - non pathogenic variant

This SNP creates a D178N mutation within the Prion Protein, which leads to inherited Creutzfeldt-Jakob disease or Fatal Familial Insomnia.