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rs63750653

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs63750653(G;T)
Make rs63750653(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position87253421
GeneCHMP2B
is asnp
is mentioned by
dbSNPrs63750653
ebirs63750653
HLIrs63750653
Exacrs63750653
Varsomers63750653
Maprs63750653
PheGenIrs63750653
hapmaprs63750653
1000 genomesrs63750653
hgdprs63750653
ensemblrs63750653
gopubmedrs63750653
geneviewrs63750653
scholarrs63750653
googlers63750653
pharmgkbrs63750653
gwascentralrs63750653
openSNPrs63750653
23andMers63750653
23andMe allrs63750653
SNP Nexus

SNPshotrs63750653
SNPdbers63750653
MSV3drs63750653
GWAS Ctlgrs63750653
Max Magnitude0
OMIM609512
Desc
Variant0002
Relatedalso


ClinVar
Risk rs63750653(T;T)
Alt rs63750653(T;T)
Reference rs63750653(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.87302571G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000001720.1, RCV000084275.1,



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