rs63750652

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs63750652(A;A)

Make rs63750652(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

87253711

Gene

CHMP2B

is a	snp
is	mentioned by
dbSNP	rs63750652
dbSNP (classic)	rs63750652
ClinGen	rs63750652
ebi	rs63750652
HLI	rs63750652
Exac	rs63750652
Gnomad	rs63750652
Varsome	rs63750652
LitVar	rs63750652
Map	rs63750652
PheGenI	rs63750652
Biobank	rs63750652
1000 genomes	rs63750652
hgdp	rs63750652
ensembl	rs63750652
geneview	rs63750652
scholar	rs63750652
google	rs63750652
pharmgkb	rs63750652
gwascentral	rs63750652
openSNP	rs63750652
23andMe	rs63750652
SNPshot	rs63750652
SNPdbe	rs63750652
MSV3d	rs63750652
GWAS Ctlg	rs63750652

Max Magnitude

0

ClinVar
Risk	rs63750652(A;A) rs63750652(C;C)
Alt	rs63750652(A;A) rs63750652(C;C)
Reference	Rs63750652(G;G)
Significance	Pathogenic
Disease	Frontotemporal Dementia not provided
Variation	info
Gene	CHMP2B
CLNDBN	Frontotemporal Dementia, Chromosome 3-Linked not provided
Reversed	0
HGVS	NC_000003.11:g.87302861G>A; NC_000003.11:g.87302861G>C
CLNSRC	ClinVar GeneReviews Neurodegenerative Brain Diseases Group
CLNACC	RCV000020694.1, RCV000084277.1,

[PMID 16041373] Mutations in the endosomal ESCRTIII-complex subunit CHMP2B in frontotemporal dementia.