rs74315411

Orientation

plus

Stabilized

plus

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

Make rs74315411(A;G)

Make rs74315411(G;G)

Reference

GRCh38 38.1/141

Chromosome

20

Position

4699767

Gene

PRNP

is a	snp
is	mentioned by
dbSNP	rs74315411
dbSNP (classic)	rs74315411
ClinGen	rs74315411
ebi	rs74315411
HLI	rs74315411
Exac	rs74315411
Gnomad	rs74315411
Varsome	rs74315411
LitVar	rs74315411
Map	rs74315411
PheGenI	rs74315411
Biobank	rs74315411
1000 genomes	rs74315411
hgdp	rs74315411
ensembl	rs74315411
geneview	rs74315411
scholar	rs74315411
google	rs74315411
pharmgkb	rs74315411
gwascentral	rs74315411
openSNP	rs74315411
23andMe	rs74315411
SNPshot	rs74315411
SNPdbe	rs74315411
MSV3d	rs74315411
GWAS Ctlg	rs74315411

Max Magnitude

0

OMIM	176640
Desc
Variant	0022
Related	also

ClinVar
Risk	rs74315411(G;G)
Alt	rs74315411(G;G)
Reference	Rs74315411(A;A)
Significance	Pathogenic
Disease	Spongiform encephalopathy with neuropsychiatric features Genetic prion diseases
Variation	info
Gene	PRNP
CLNDBN	Spongiform encephalopathy with neuropsychiatric features Genetic prion diseases
Reversed	0
HGVS	NC_000020.10:g.4680413A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000014347.24, RCV000020250.1,

[PMID 9266722] Familial spongiform encephalopathy associated with a novel prion protein gene mutation.