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rs74315412

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs74315412(A;A)
Make rs74315412(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position4699843
GenePRNP
is asnp
is mentioned by
dbSNPrs74315412
ebirs74315412
HLIrs74315412
Exacrs74315412
Varsomers74315412
Maprs74315412
PheGenIrs74315412
hapmaprs74315412
1000 genomesrs74315412
hgdprs74315412
ensemblrs74315412
gopubmedrs74315412
geneviewrs74315412
scholarrs74315412
googlers74315412
pharmgkbrs74315412
gwascentralrs74315412
openSNPrs74315412
23andMers74315412
23andMe allrs74315412
SNP Nexus

SNPshotrs74315412
SNPdbers74315412
MSV3drs74315412
GWAS Ctlgrs74315412
Max Magnitude0
OMIM176640
Desc
Variant0023
Relatedalso
ClinVar
Risk rs74315412(A;A)
Alt rs74315412(A;A)
Reference rs74315412(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.4680489G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014352.24, RCV000020254.1,


[PMID 8909447] Mutation of the prion protein gene at codon 208 in familial Creutzfeldt-Jakob disease.


[PMID 15753435] Creutzfeldt-Jakob disease associated with the R208H mutation in the prion protein gene.


[PMID 16533975] Familial Creutzfeldt-Jakob disease with an R208H-129V haplotype and Kuru plaques.