rs794729669

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;G)	7	Frontotemporal dementia mutation
(G;G)	0	common in clinvar

Make rs794729669(C;C)

Reference

GRCh38.p2 38.2/146

Chromosome

17

Position

44350341

Gene

GRN

is a	snp
is	mentioned by
dbSNP	rs794729669
dbSNP (classic)	rs794729669
ClinGen	rs794729669
ebi	rs794729669
HLI	rs794729669
Exac	rs794729669
Gnomad	rs794729669
Varsome	rs794729669
LitVar	rs794729669
Map	rs794729669
PheGenI	rs794729669
Biobank	rs794729669
1000 genomes	rs794729669
hgdp	rs794729669
ensembl	rs794729669
geneview	rs794729669
scholar	rs794729669
google	rs794729669
pharmgkb	rs794729669
gwascentral	rs794729669
openSNP	rs794729669
23andMe	rs794729669
SNPshot	rs794729669
SNPdbe	rs794729669
MSV3d	rs794729669
GWAS Ctlg	rs794729669

Max Magnitude

7

rs794729669, also known as c.462+1G>C, represents a very rare mutation in the GRN gene on chromosome 17.

The rs794729669(C) allele is reported in ClinVar as a dominant mutation pathogenic for frontotemporal dementia.

ClinVar
Risk	rs794729669(C;C)
Alt	rs794729669(C;C)
Reference	Rs794729669(G;G)
Significance	Pathogenic
Disease	Frontotemporal dementia
Variation	info
Gene	GRN
CLNDBN	Frontotemporal dementia
Reversed	0
HGVS	NC_000017.10:g.42427709G>C
CLNSRC
CLNACC	RCV000185610.1,