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rs74315409

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs74315409(G;G)
Make rs74315409(G;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position4699915
GenePRNP
is asnp
is mentioned by
dbSNPrs74315409
ebirs74315409
HLIrs74315409
Exacrs74315409
Varsomers74315409
Maprs74315409
PheGenIrs74315409
hapmaprs74315409
1000 genomesrs74315409
hgdprs74315409
ensemblrs74315409
gopubmedrs74315409
geneviewrs74315409
scholarrs74315409
googlers74315409
pharmgkbrs74315409
gwascentralrs74315409
openSNPrs74315409
23andMers74315409
23andMe allrs74315409
SNP Nexus

SNPshotrs74315409
SNPdbers74315409
MSV3drs74315409
GWAS Ctlgrs74315409
GMAF0.0004591
Max Magnitude0
OMIM176640
Desc
Variant0017
Relatedalso
ClinVar
Risk rs74315409(G;G)
Alt rs74315409(G;G)
Reference rs74315409(T;T)
Significance Pathogenic
Disease Jakob-Creutzfeldt disease Genetic prion diseases
Variation info
Gene PRNP
CLNDBN Jakob-Creutzfeldt disease Genetic prion diseases
Reversed 0
HGVS NC_000020.10:g.4680561T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014345.13, RCV000020258.1,


[PMID 8461023] Novel missense variants of prion protein in Creutzfeldt-Jakob disease or Gerstmann-Straussler syndrome.