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rs74315406

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs74315406(A;G)
Make rs74315406(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position4699870
GenePRNP
is asnp
is mentioned by
dbSNPrs74315406
ebirs74315406
HLIrs74315406
Exacrs74315406
Varsomers74315406
Maprs74315406
PheGenIrs74315406
hapmaprs74315406
1000 genomesrs74315406
hgdprs74315406
ensemblrs74315406
gopubmedrs74315406
geneviewrs74315406
scholarrs74315406
googlers74315406
pharmgkbrs74315406
gwascentralrs74315406
openSNPrs74315406
23andMers74315406
23andMe allrs74315406
SNP Nexus

SNPshotrs74315406
SNPdbers74315406
MSV3drs74315406
GWAS Ctlgrs74315406
Max Magnitude0
OMIM176640
Desc
Variant0012
Relatedalso
ClinVar
Risk rs74315406(G;G)
Alt rs74315406(G;G)
Reference Rs74315406(A;A)
Significance Pathogenic
Disease Gerstmann-Straussler-Scheinker syndrome Genetic prion diseases
Variation info
Gene PRNP
CLNDBN Gerstmann-Straussler-Scheinker syndrome Genetic prion diseases
Reversed 0
HGVS NC_000020.10:g.4680516A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014341.20, RCV000020256.1,


[PMID 1363810] Mutant prion proteins in Gerstmann-Straussler-Scheinker disease with neurofibrillary tangles.