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rs1800014

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in complete genomics
Make rs1800014(A;A)
Make rs1800014(A;G)
ReferenceGRCh38 38.1/141
Chromosome20
Position4699875
GenePRNP
is asnp
is mentioned by
dbSNPrs1800014
ebirs1800014
HLIrs1800014
Exacrs1800014
Varsomers1800014
Maprs1800014
PheGenIrs1800014
hapmaprs1800014
1000 genomesrs1800014
hgdprs1800014
ensemblrs1800014
gopubmedrs1800014
geneviewrs1800014
scholarrs1800014
googlers1800014
pharmgkbrs1800014
gwascentralrs1800014
openSNPrs1800014
23andMers1800014
23andMe allrs1800014
SNP Nexus

SNPshotrs1800014
SNPdbers1800014
MSV3drs1800014
GWAS Ctlgrs1800014
GMAF0.009183
Max Magnitude0
OMIM176640
Desc
Variant0019
Relatedalso


ClinVar
Risk rs1800014(A;A)
Alt rs1800014(A;A)
Reference rs1800014(G;G)
Significance Non-pathogenic
Disease Protection against Creutzfeldt-Jakob disease Genetic prion diseases
Variation info
Gene PRNP
CLNDBN Protection against Creutzfeldt-Jakob disease Genetic prion diseases
Reversed 0
HGVS NC_000020.10:g.4680521G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014350.4, RCV000020257.1,



[PMID 17202849] No association of prion protein gene polymorphisms with Alzheimer's disease in Korean population.


[PMID 9482303] Protective prion protein polymorphisms against sporadic Creutzfeldt-Jakob disease.


[PMID 12815603] Prion susceptibility and protective alleles exhibit marked geographic differences.


[PMID 15557533] Creutzfeldt-Jakob disease with a novel insertion and codon 219 Lys/Lys polymorphism in PRNP.


[PMID 16217673] Association of sporadic Creutzfeldt-Jakob disease with homozygous genotypes at PRNP codons 129 and 219 in the Korean population.


[PMID 22561193OA-icon.png] Genotype patterns and characteristics of PRNP in the Korean population