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rs63750818

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs63750818(A;G)
Make rs63750818(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position87240749
GeneCHMP2B
is asnp
is mentioned by
dbSNPrs63750818
ebirs63750818
HLIrs63750818
Exacrs63750818
Varsomers63750818
Maprs63750818
PheGenIrs63750818
hapmaprs63750818
1000 genomesrs63750818
hgdprs63750818
ensemblrs63750818
gopubmedrs63750818
geneviewrs63750818
scholarrs63750818
googlers63750818
pharmgkbrs63750818
gwascentralrs63750818
openSNPrs63750818
23andMers63750818
23andMe allrs63750818
SNP Nexus

SNPshotrs63750818
SNPdbers63750818
MSV3drs63750818
GWAS Ctlgrs63750818
Max Magnitude0
ClinVar
Risk rs63750818(G;G)
Alt rs63750818(G;G)
Reference rs63750818(A;A)
Significance Pathogenic
Disease Frontotemporal Dementia Amyotrophic lateral sclerosis 17 not provided
Variation info
Gene CHMP2B
CLNDBN Frontotemporal Dementia, Chromosome 3-Linked Amyotrophic lateral sclerosis 17 not provided
Reversed 0
HGVS NC_000003.11:g.87289899A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000020697.4, RCV000029146.3, RCV000084271.1,



[PMID 16431024] CHMP2B mutations are not a common cause of frontotemporal lobar degeneration.


[PMID 16807408] ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B).


[PMID 16941655] CHMP2B mutations are not a cause of dementia in Dutch patients with familial and sporadic frontotemporal dementia.