PRNP, prion protein, 5621

N. diseases: 426; N. variants: 47
Disease: Fatal Familial Insomnia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800014
rs1800014
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
CUI: C0206042
Disease:
Fatal Familial Insomnia 		0.010 GeneticVariation BEFREE A total of 616 chromosomes from control individuals of all major continental groups, and six individuals affected by either Creutzfeldt-Jakob disease (CJD) or fatal familial insomnia (FFI), were typed with a new single-reaction protocol method and were also sequenced, with total reproducibility to screen variation at important positions (385A>G: M129V and 655G>A: E219K) in the human prion protein gene (PRNP). 12815603 2003