rs74315406

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	0	common in clinvar
(A;G)	8	Gerstmann–Straussler–Scheinker syndrome

Make rs74315406(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

4699870

Gene

PRNP

is a	snp
is	mentioned by
dbSNP	rs74315406
dbSNP (classic)	rs74315406
ClinGen	rs74315406
ebi	rs74315406
HLI	rs74315406
Exac	rs74315406
Gnomad	rs74315406
Varsome	rs74315406
LitVar	rs74315406
Map	rs74315406
PheGenI	rs74315406
Biobank	rs74315406
1000 genomes	rs74315406
hgdp	rs74315406
ensembl	rs74315406
geneview	rs74315406
scholar	rs74315406
google	rs74315406
pharmgkb	rs74315406
gwascentral	rs74315406
openSNP	rs74315406
23andMe	rs74315406
SNPshot	rs74315406
SNPdbe	rs74315406
MSV3d	rs74315406
GWAS Ctlg	rs74315406

Max Magnitude

8

OMIM	176640
Desc
Variant	0012
Related	also

ClinVar
Risk	rs74315406(G;G)
Alt	rs74315406(G;G)
Reference	Rs74315406(A;A)
Significance	Pathogenic
Disease	Gerstmann-Straussler-Scheinker syndrome Genetic prion diseases
Variation	info
Gene	PRNP
CLNDBN	Gerstmann-Straussler-Scheinker syndrome Genetic prion diseases
Reversed	0
HGVS	NC_000020.10:g.4680516A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014341.20, RCV000020256.1,

[PMID 1363810] Mutant prion proteins in Gerstmann-Straussler-Scheinker disease with neurofibrillary tangles.