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rs398122413

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;G) 7 Gerstmann–Straussler–Scheinker syndrome
(G;G) 0 common in clinvar


Make rs398122413(C;C)
ReferenceGRCh38 38.1/141
Chromosome20
Position4699853
GenePRNP
is asnp
is mentioned by
dbSNPrs398122413
dbSNP (classic)rs398122413
ClinGenrs398122413
ebirs398122413
HLIrs398122413
Exacrs398122413
Gnomadrs398122413
Varsomers398122413
LitVarrs398122413
Maprs398122413
PheGenIrs398122413
Biobankrs398122413
1000 genomesrs398122413
hgdprs398122413
ensemblrs398122413
geneviewrs398122413
scholarrs398122413
googlers398122413
pharmgkbrs398122413
gwascentralrs398122413
openSNPrs398122413
23andMers398122413
SNPshotrs398122413
SNPdbers398122413
MSV3drs398122413
GWAS Ctlgrs398122413
Max Magnitude7
ClinVar
Risk rs398122413(C;C)
Alt rs398122413(C;C)
Reference Rs398122413(G;G)
Significance Pathogenic
Disease Gerstmann-Straussler-Scheinker syndrome
Variation info
Gene PRNP
CLNDBN Gerstmann-Straussler-Scheinker syndrome
Reversed 0
HGVS NC_000020.10:g.4680499G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000074467.15,