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rs74315407

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315407(A;A)
Make rs74315407(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position4699848
GenePRNP
is asnp
is mentioned by
dbSNPrs74315407
ebirs74315407
HLIrs74315407
Exacrs74315407
Varsomers74315407
Maprs74315407
PheGenIrs74315407
hapmaprs74315407
1000 genomesrs74315407
hgdprs74315407
ensemblrs74315407
gopubmedrs74315407
geneviewrs74315407
scholarrs74315407
googlers74315407
pharmgkbrs74315407
gwascentralrs74315407
openSNPrs74315407
23andMers74315407
23andMe allrs74315407
SNP Nexus

SNPshotrs74315407
SNPdbers74315407
MSV3drs74315407
GWAS Ctlgrs74315407
Max Magnitude0
OMIM176640
Desc
Variant0014
Relatedalso
ClinVar
Risk rs74315407(A;A)
Alt rs74315407(A;A)
Reference rs74315407(G;G)
Significance Pathogenic
Disease Jakob-Creutzfeldt disease Genetic prion diseases
Variation info
Gene PRNP
CLNDBN Jakob-Creutzfeldt disease Genetic prion diseases
Reversed 0
HGVS NC_000020.10:g.4680494G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014342.21, RCV000020255.1,


[PMID 7902693] A new point mutation of the prion protein gene in Creutzfeldt-Jakob disease.


[PMID 10526198] Mutation at codon 210 (V210I) of the prion protein gene in a North African patient with Creutzfeldt-Jakob disease.