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rs281875284

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs281875284(C;T)
Make rs281875284(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position58418289
GeneVAPB
is asnp
is mentioned by
dbSNPrs281875284
ebirs281875284
HLIrs281875284
Exacrs281875284
Varsomers281875284
Maprs281875284
PheGenIrs281875284
hapmaprs281875284
1000 genomesrs281875284
hgdprs281875284
ensemblrs281875284
gopubmedrs281875284
geneviewrs281875284
scholarrs281875284
googlers281875284
pharmgkbrs281875284
gwascentralrs281875284
openSNPrs281875284
23andMers281875284
23andMe allrs281875284
SNP Nexus

SNPshotrs281875284
SNPdbers281875284
MSV3drs281875284
GWAS Ctlgrs281875284
Max Magnitude0
ClinVar
Risk rs281875284(T;T)
Alt rs281875284(T;T)
Reference rs281875284(C;C)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis type 8 not provided
Variation info
Gene VAPB
CLNDBN Amyotrophic lateral sclerosis type 8 not provided
Reversed 0
HGVS NC_000020.10:g.56993345C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000023467.3, RCV000059634.1,


[PMID 20940299OA-icon.png] Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis.