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rs794729671

From SNPedia

Orientationplus
Geno Mag Summary
(-;T) 7 Frontotemporal dementia mutation
Make rs794729671(-;-)
Make rs794729671(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome17
Position44352081
GeneGRN
is asnp
is mentioned by
dbSNPrs794729671
ebirs794729671
HLIrs794729671
Exacrs794729671
Varsomers794729671
Maprs794729671
PheGenIrs794729671
hapmaprs794729671
1000 genomesrs794729671
hgdprs794729671
ensemblrs794729671
gopubmedrs794729671
geneviewrs794729671
scholarrs794729671
googlers794729671
pharmgkbrs794729671
gwascentralrs794729671
openSNPrs794729671
23andMers794729671
23andMe allrs794729671
SNP Nexus

SNPshotrs794729671
SNPdbers794729671
MSV3drs794729671
GWAS Ctlgrs794729671
Max Magnitude7

rs794729671, also known as c.1246dupT and p.Cys416Leufs, represents a very rare mutation in the GRN gene on chromosome 17.

The rs794729671(T) allele is reported in ClinVar as a dominant mutation pathogenic for frontotemporal dementia.

ClinVar
Risk rs794729671(T;T)
Alt rs794729671(T;T)
Reference rs794729671(;)
Significance Pathogenic
Disease Frontotemporal dementia
Variation info
Gene GRN
CLNDBN Frontotemporal dementia
Reversed 0
HGVS NC_000017.10:g.42429449dupT
CLNSRC
CLNACC RCV000185613.1,