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rs17852079

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 6 Gerstmann–Straussler–Scheinker syndrome
Make rs17852079(A;A)
Make rs17852079(A;C)
ReferenceGRCh38 38.1/141
Chromosome20
Position4699899
GenePRNP
is asnp
is mentioned by
dbSNPrs17852079
dbSNP (classic)rs17852079
ClinGenrs17852079
ebirs17852079
HLIrs17852079
Exacrs17852079
Gnomadrs17852079
Varsomers17852079
LitVarrs17852079
Maprs17852079
PheGenIrs17852079
Biobankrs17852079
1000 genomesrs17852079
hgdprs17852079
ensemblrs17852079
geneviewrs17852079
scholarrs17852079
googlers17852079
pharmgkbrs17852079
gwascentralrs17852079
openSNPrs17852079
23andMers17852079
SNPshotrs17852079
SNPdbers17852079
MSV3drs17852079
GWAS Ctlgrs17852079
Max Magnitude6
ClinVar
Risk rs17852079(A;A) rs17852079(T;T)
Alt rs17852079(A;A) rs17852079(T;T)
Reference Rs17852079(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.4680545C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000074472.17,