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rs794729669

From SNPedia

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


Make rs794729669(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44350341
GeneGRN
is asnp
is mentioned by
dbSNPrs794729669
ebirs794729669
HLIrs794729669
Exacrs794729669
Varsomers794729669
Maprs794729669
PheGenIrs794729669
hapmaprs794729669
1000 genomesrs794729669
hgdprs794729669
ensemblrs794729669
gopubmedrs794729669
geneviewrs794729669
scholarrs794729669
googlers794729669
pharmgkbrs794729669
gwascentralrs794729669
openSNPrs794729669
23andMers794729669
23andMe allrs794729669
SNP Nexus

SNPshotrs794729669
SNPdbers794729669
MSV3drs794729669
GWAS Ctlgrs794729669
Max Magnitude7

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,