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rs74315408

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315408(A;A)
Make rs74315408(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position4699758
GenePRNP
is asnp
is mentioned by
dbSNPrs74315408
ebirs74315408
HLIrs74315408
Exacrs74315408
Varsomers74315408
Maprs74315408
PheGenIrs74315408
hapmaprs74315408
1000 genomesrs74315408
hgdprs74315408
ensemblrs74315408
gopubmedrs74315408
geneviewrs74315408
scholarrs74315408
googlers74315408
pharmgkbrs74315408
gwascentralrs74315408
openSNPrs74315408
23andMers74315408
23andMe allrs74315408
SNP Nexus

SNPshotrs74315408
SNPdbers74315408
MSV3drs74315408
GWAS Ctlgrs74315408
GMAF0.0004591
Max Magnitude0
OMIM176640
Desc
Variant0016
Relatedalso
ClinVar
Risk rs74315408(A;A)
Alt rs74315408(A;A)
Reference rs74315408(G;G)
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.4680404G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014344.24, RCV000020249.1,


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


[PMID 14872044] Clinical features of Creutzfeldt-Jakob disease with V180I mutation.