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rs74315415

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 7 Gerstmann–Straussler–Scheinker syndrome
Make rs74315415(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position4699618
GenePRNP
is asnp
is mentioned by
dbSNPrs74315415
dbSNP (classic)rs74315415
ClinGenrs74315415
ebirs74315415
HLIrs74315415
Exacrs74315415
Gnomadrs74315415
Varsomers74315415
LitVarrs74315415
Maprs74315415
PheGenIrs74315415
Biobankrs74315415
1000 genomesrs74315415
hgdprs74315415
ensemblrs74315415
geneviewrs74315415
scholarrs74315415
googlers74315415
pharmgkbrs74315415
gwascentralrs74315415
openSNPrs74315415
23andMers74315415
SNPshotrs74315415
SNPdbers74315415
MSV3drs74315415
GWAS Ctlgrs74315415
Max Magnitude7
OMIM176640
Desc
Variant0026
Relatedalso
ClinVar
Risk rs74315415(T;T)
Alt rs74315415(T;T)
Reference Rs74315415(C;C)
Significance Pathogenic
Disease Gerstmann-Straussler-Scheinker syndrome
Variation info
Gene PRNP
CLNDBN Gerstmann-Straussler-Scheinker syndrome
Reversed 0
HGVS NC_000020.10:g.4680264C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000014356.24,