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rs606231221

From SNPedia

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


Make rs606231221(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome17
Position44351164
GeneGRN
is asnp
is mentioned by
dbSNPrs606231221
ebirs606231221
HLIrs606231221
Exacrs606231221
Varsomers606231221
Maprs606231221
PheGenIrs606231221
hapmaprs606231221
1000 genomesrs606231221
hgdprs606231221
ensemblrs606231221
gopubmedrs606231221
geneviewrs606231221
scholarrs606231221
googlers606231221
pharmgkbrs606231221
gwascentralrs606231221
openSNPrs606231221
23andMers606231221
23andMe allrs606231221
SNP Nexus

SNPshotrs606231221
SNPdbers606231221
MSV3drs606231221
GWAS Ctlgrs606231221
Max Magnitude7

rs606231221, also known as c.835+1G>A, represents a very rare mutation in the GRN gene on chromosome 17.

The rs606231221(CCTG) allele is reported in ClinVar as a dominant mutation pathogenic for frontotemporal dementia.

ClinVar
Risk rs606231221(A;A)
Alt rs606231221(A;A)
Reference rs606231221(G;G)
Significance Pathogenic
Disease Frontotemporal dementia
Variation info
Gene GRN
CLNDBN Frontotemporal dementia, ubiquitin-positive
Reversed 0
HGVS NC_000017.10:g.42428532G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000017385.29,