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rs63750652

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63750652(A;A)
Make rs63750652(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position87253711
GeneCHMP2B
is asnp
is mentioned by
dbSNPrs63750652
ebirs63750652
HLIrs63750652
Exacrs63750652
Varsomers63750652
Maprs63750652
PheGenIrs63750652
hapmaprs63750652
1000 genomesrs63750652
hgdprs63750652
ensemblrs63750652
gopubmedrs63750652
geneviewrs63750652
scholarrs63750652
googlers63750652
pharmgkbrs63750652
gwascentralrs63750652
openSNPrs63750652
23andMers63750652
23andMe allrs63750652
SNP Nexus

SNPshotrs63750652
SNPdbers63750652
MSV3drs63750652
GWAS Ctlgrs63750652
Max Magnitude0
ClinVar
Risk rs63750652(A,C;A,C)
Alt rs63750652(A,C;A,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.