rs1800014

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in complete genomics

Make rs1800014(A;A)

Make rs1800014(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

4699875

Gene

PRNP

is a	snp
is	mentioned by
dbSNP	rs1800014
dbSNP (classic)	rs1800014
ClinGen	rs1800014
ebi	rs1800014
HLI	rs1800014
Exac	rs1800014
Gnomad	rs1800014
Varsome	rs1800014
LitVar	rs1800014
Map	rs1800014
PheGenI	rs1800014
Biobank	rs1800014
1000 genomes	rs1800014
hgdp	rs1800014
ensembl	rs1800014
geneview	rs1800014
scholar	rs1800014
google	rs1800014
pharmgkb	rs1800014
gwascentral	rs1800014
openSNP	rs1800014
23andMe	rs1800014
SNPshot	rs1800014
SNPdbe	rs1800014
MSV3d	rs1800014
GWAS Ctlg	rs1800014

GMAF

0.009183

Max Magnitude

0

OMIM	176640
Desc
Variant	0019
Related	also

ClinVar
Risk	rs1800014(A;A)
Alt	rs1800014(A;A)
Reference	Rs1800014(G;G)
Significance	Other
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 UniProtKB (protein)
CLNACC	RCV000014350.4, RCV000020257.2,

[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 22561193] Genotype patterns and characteristics of PRNP in the Korean population