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rs16990018

From SNPedia

Codes for Prion Protein codon 171
Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 PrP Codon 171 Asn - Non-pathogenic variant
(A;G) 1 PrP 171 N/S Heterozygote - Unknown significance
(G;G) 2
ReferenceGRCh38 38.1/141
Chromosome20
Position4699732
GenePRNP
is asnp
is mentioned by
dbSNPrs16990018
ebirs16990018
HLIrs16990018
Exacrs16990018
Varsomers16990018
Maprs16990018
PheGenIrs16990018
hapmaprs16990018
1000 genomesrs16990018
hgdprs16990018
ensemblrs16990018
gopubmedrs16990018
geneviewrs16990018
scholarrs16990018
googlers16990018
pharmgkbrs16990018
gwascentralrs16990018
openSNPrs16990018
23andMers16990018
23andMe allrs16990018
SNP Nexus

SNPshotrs16990018
SNPdbers16990018
MSV3drs16990018
GWAS Ctlgrs16990018
GMAF0.01882
Max Magnitude2
? (A;A) (A;G) (G;G) 28
OMIM176640
DescSPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES
Variant0018
Relatedalso
Neighborrs1799990
Distance127
Neighborrs28933385
Distance86


ClinVar
Risk rs16990018(G;G)
Alt rs16990018(G;G)
Reference rs16990018(A;A)
Significance Non-pathogenic
Disease Spongiform encephalopathy with neuropsychiatric features Genetic prion diseases
Variation info
Gene PRNP
CLNDBN Spongiform encephalopathy with neuropsychiatric features Genetic prion diseases
Reversed 0
HGVS NC_000020.10:g.4680378A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014348.13, RCV000020247.1,



The importance of this codon has been reclassified based on further research. Normally Asn, the Asn171Ser variant was identified in a patient with Prion disease, [PMID 9384372], and further research indicated that it may be associated with temporal lobe epilepsy [PMID 15304595].

However, more recent research [PMID 20583301] has indicated that the N171S variant is present in healthy members of numerous populations, reaching penetrance of 11% in Biaka Pygmies and 5% in Jamaicans. Thus this polymorphism is considered of unknown significance.