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rs74315410

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 8 Gerstmann–Straussler–Scheinker syndrome
Make rs74315410(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position4699612
GenePRNP
is asnp
is mentioned by
dbSNPrs74315410
dbSNP (classic)rs74315410
ClinGenrs74315410
ebirs74315410
HLIrs74315410
Exacrs74315410
Gnomadrs74315410
Varsomers74315410
LitVarrs74315410
Maprs74315410
PheGenIrs74315410
Biobankrs74315410
1000 genomesrs74315410
hgdprs74315410
ensemblrs74315410
geneviewrs74315410
scholarrs74315410
googlers74315410
pharmgkbrs74315410
gwascentralrs74315410
openSNPrs74315410
23andMers74315410
SNPshotrs74315410
SNPdbers74315410
MSV3drs74315410
GWAS Ctlgrs74315410
Max Magnitude8
OMIM176640
Desc
Variant0021
Relatedalso
ClinVar
Risk rs74315410(T;T)
Alt rs74315410(T;T)
Reference Rs74315410(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.4680258G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014351.25,