Have questions? Visit https://www.reddit.com/r/SNPedia

rs794729670

From SNPedia

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


Make rs794729670(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44351409
GeneGRN
is asnp
is mentioned by
dbSNPrs794729670
ebirs794729670
HLIrs794729670
Exacrs794729670
Varsomers794729670
Maprs794729670
PheGenIrs794729670
hapmaprs794729670
1000 genomesrs794729670
hgdprs794729670
ensemblrs794729670
gopubmedrs794729670
geneviewrs794729670
scholarrs794729670
googlers794729670
pharmgkbrs794729670
gwascentralrs794729670
openSNPrs794729670
23andMers794729670
23andMe allrs794729670
SNP Nexus

SNPshotrs794729670
SNPdbers794729670
MSV3drs794729670
GWAS Ctlgrs794729670
Max Magnitude7

rs794729670, also known as c.882T>G and p.Tyr294Ter, represents a very rare mutation in the GRN gene on chromosome 17.

The rs794729670(G) allele is reported in ClinVar as a dominant mutation pathogenic for frontotemporal dementia.

ClinVar
Risk rs794729670(G;G)
Alt rs794729670(G;G)
Reference rs794729670(T;T)
Significance Pathogenic
Disease Frontotemporal dementia
Variation info
Gene GRN
CLNDBN Frontotemporal dementia
Reversed 0
HGVS NC_000017.10:g.42428777T>G
CLNSRC
CLNACC RCV000185611.1,