rs74315412

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs74315412(A;A)

Make rs74315412(A;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

4699843

Gene

PRNP

is a	snp
is	mentioned by
dbSNP	rs74315412
dbSNP (classic)	rs74315412
ClinGen	rs74315412
ebi	rs74315412
HLI	rs74315412
Exac	rs74315412
Gnomad	rs74315412
Varsome	rs74315412
LitVar	rs74315412
Map	rs74315412
PheGenI	rs74315412
Biobank	rs74315412
1000 genomes	rs74315412
hgdp	rs74315412
ensembl	rs74315412
geneview	rs74315412
scholar	rs74315412
google	rs74315412
pharmgkb	rs74315412
gwascentral	rs74315412
openSNP	rs74315412
23andMe	rs74315412
SNPshot	rs74315412
SNPdbe	rs74315412
MSV3d	rs74315412
GWAS Ctlg	rs74315412

Max Magnitude

0

OMIM	176640
Desc
Variant	0023
Related	also

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 UniProtKB (protein)
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.