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rs74315413

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs74315413(A;G)
Make rs74315413(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position4699780
GenePRNP
is asnp
is mentioned by
dbSNPrs74315413
ebirs74315413
HLIrs74315413
Exacrs74315413
Varsomers74315413
Maprs74315413
PheGenIrs74315413
hapmaprs74315413
1000 genomesrs74315413
hgdprs74315413
ensemblrs74315413
gopubmedrs74315413
geneviewrs74315413
scholarrs74315413
googlers74315413
pharmgkbrs74315413
gwascentralrs74315413
openSNPrs74315413
23andMers74315413
23andMe allrs74315413
SNP Nexus

SNPshotrs74315413
SNPdbers74315413
MSV3drs74315413
GWAS Ctlgrs74315413
Max Magnitude0
OMIM176640
Desc
Variant0024
Relatedalso
ClinVar
Risk rs74315413(G;G)
Alt rs74315413(G;G)
Reference rs74315413(A;A)
Significance Pathogenic
Disease Gerstmann-Straussler-Scheinker syndrome Spongiform encephalopathy with neuropsychiatric features Genetic prion diseases
Variation info
Gene PRNP
CLNDBN Gerstmann-Straussler-Scheinker syndrome Spongiform encephalopathy with neuropsychiatric features Genetic prion diseases
Reversed 0
HGVS NC_000020.10:g.4680426A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014353.21, RCV000014354.25, RCV000020251.1,


[PMID 10581485] Novel PRNP sequence variant associated with familial encephalopathy.


[PMID 10953183] Inherited prion encephalopathy associated with the novel PRNP H187R mutation: a clinical study.