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rs74315411

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs74315411(A;G)
Make rs74315411(G;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position4699767
GenePRNP
is asnp
is mentioned by
dbSNPrs74315411
ebirs74315411
HLIrs74315411
Exacrs74315411
Varsomers74315411
Maprs74315411
PheGenIrs74315411
hapmaprs74315411
1000 genomesrs74315411
hgdprs74315411
ensemblrs74315411
gopubmedrs74315411
geneviewrs74315411
scholarrs74315411
googlers74315411
pharmgkbrs74315411
gwascentralrs74315411
openSNPrs74315411
23andMers74315411
23andMe allrs74315411
SNP Nexus

SNPshotrs74315411
SNPdbers74315411
MSV3drs74315411
GWAS Ctlgrs74315411
Max Magnitude0
OMIM176640
Desc
Variant0022
Relatedalso
ClinVar
Risk rs74315411(G;G)
Alt rs74315411(G;G)
Reference rs74315411(A;A)
Significance Pathogenic
Disease Spongiform encephalopathy with neuropsychiatric features Genetic prion diseases
Variation info
Gene PRNP
CLNDBN Spongiform encephalopathy with neuropsychiatric features Genetic prion diseases
Reversed 0
HGVS NC_000020.10:g.4680413A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000014347.24, RCV000020250.1,


[PMID 9266722] Familial spongiform encephalopathy associated with a novel prion protein gene mutation.