rs74315413

Orientation

plus

Stabilized

plus

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

Make rs74315413(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

4699780

Gene

PRNP

is a	snp
is	mentioned by
dbSNP	rs74315413
dbSNP (classic)	rs74315413
ClinGen	rs74315413
ebi	rs74315413
HLI	rs74315413
Exac	rs74315413
Gnomad	rs74315413
Varsome	rs74315413
LitVar	rs74315413
Map	rs74315413
PheGenI	rs74315413
Biobank	rs74315413
1000 genomes	rs74315413
hgdp	rs74315413
ensembl	rs74315413
geneview	rs74315413
scholar	rs74315413
google	rs74315413
pharmgkb	rs74315413
gwascentral	rs74315413
openSNP	rs74315413
23andMe	rs74315413
SNPshot	rs74315413
SNPdbe	rs74315413
MSV3d	rs74315413
GWAS Ctlg	rs74315413

Max Magnitude

8

OMIM	176640
Desc
Variant	0024
Related	also

ClinVar
Risk	rs74315413(G;G)
Alt	rs74315413(G;G)
Reference	Rs74315413(A;A)
Significance	Pathogenic
Disease	Gerstmann-Straussler-Scheinker syndrome Spongiform encephalopathy with neuropsychiatric features Genetic prion diseases
Variation	info
Gene	PRNP
CLNDBN	Gerstmann-Straussler-Scheinker syndrome Spongiform encephalopathy with neuropsychiatric features Genetic prion diseases
Reversed	0
HGVS	NC_000020.10:g.4680426A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014353.21, RCV000014354.25, RCV000020251.1,

[PMID 10581485] Novel PRNP sequence variant associated with familial encephalopathy.

[PMID 10953183] Inherited prion encephalopathy associated with the novel PRNP H187R mutation: a clinical study.