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rs281864934

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281864934(A;A)
Make rs281864934(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position87245898
GeneCHMP2B
is asnp
is mentioned by
dbSNPrs281864934
dbSNP (classic)rs281864934
ClinGenrs281864934
ebirs281864934
HLIrs281864934
Exacrs281864934
Gnomadrs281864934
Varsomers281864934
LitVarrs281864934
Maprs281864934
PheGenIrs281864934
Biobankrs281864934
1000 genomesrs281864934
hgdprs281864934
ensemblrs281864934
geneviewrs281864934
scholarrs281864934
googlers281864934
pharmgkbrs281864934
gwascentralrs281864934
openSNPrs281864934
23andMers281864934
SNPshotrs281864934
SNPdbers281864934
MSV3drs281864934
GWAS Ctlgrs281864934
Max Magnitude0
ClinVar
Risk rs281864934(A;A)
Alt rs281864934(A;A)
Reference Rs281864934(C;C)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis 17 Frontotemporal Dementia
Variation info
Gene CHMP2B
CLNDBN Amyotrophic lateral sclerosis 17 Frontotemporal Dementia, Chromosome 3-Linked
Reversed 0
HGVS NC_000003.11:g.87295048C>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000029148.3, RCV000055937.1,