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rs74315431

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs74315431(C;T)
Make rs74315431(T;T)
ReferenceGRCh38 38.1/141
Chromosome20
Position58418318
GeneVAPB
is asnp
is mentioned by
dbSNPrs74315431
ebirs74315431
HLIrs74315431
Exacrs74315431
Varsomers74315431
Maprs74315431
PheGenIrs74315431
hapmaprs74315431
1000 genomesrs74315431
hgdprs74315431
ensemblrs74315431
gopubmedrs74315431
geneviewrs74315431
scholarrs74315431
googlers74315431
pharmgkbrs74315431
gwascentralrs74315431
openSNPrs74315431
23andMers74315431
23andMe allrs74315431
SNP Nexus

SNPshotrs74315431
SNPdbers74315431
MSV3drs74315431
GWAS Ctlgrs74315431
Max Magnitude0
OMIM605704
Desc
Variant0001
Relatedalso
ClinVar
Risk rs74315431(T;T)
Alt rs74315431(T;T)
Reference rs74315431(C;C)
Significance Pathogenic
Disease Amyotrophic lateral sclerosis type 8 Spinal muscular atrophy Amyotrophic lateral sclerosis not provided
Variation info
Gene VAPB
CLNDBN Amyotrophic lateral sclerosis type 8 Spinal muscular atrophy, late-onset, finkel type Amyotrophic lateral sclerosis, typical not provided
Reversed 0
HGVS NC_000020.10:g.56993374C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000005073.3, RCV000005074.3, RCV000005075.3, RCV000059635.1,


[PMID 15372378OA-icon.png] A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.