rs606231221

Orientation

plus

Stabilized

plus

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

Make rs606231221(A;A)

Reference

GRCh38.p2 38.2/144

Chromosome

17

Position

44351164

Gene

GRN

is a	snp
is	mentioned by
dbSNP	rs606231221
dbSNP (classic)	rs606231221
ClinGen	rs606231221
ebi	rs606231221
HLI	rs606231221
Exac	rs606231221
Gnomad	rs606231221
Varsome	rs606231221
LitVar	rs606231221
Map	rs606231221
PheGenI	rs606231221
Biobank	rs606231221
1000 genomes	rs606231221
hgdp	rs606231221
ensembl	rs606231221
geneview	rs606231221
scholar	rs606231221
google	rs606231221
pharmgkb	rs606231221
gwascentral	rs606231221
openSNP	rs606231221
23andMe	rs606231221
SNPshot	rs606231221
SNPdbe	rs606231221
MSV3d	rs606231221
GWAS Ctlg	rs606231221

Max Magnitude

7

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,