rs74315431

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs74315431(C;T)

Make rs74315431(T;T)

Reference

GRCh38 38.1/141

Chromosome

20

Position

58418318

Gene

VAPB

is a	snp
is	mentioned by
dbSNP	rs74315431
dbSNP (classic)	rs74315431
ClinGen	rs74315431
ebi	rs74315431
HLI	rs74315431
Exac	rs74315431
Gnomad	rs74315431
Varsome	rs74315431
LitVar	rs74315431
Map	rs74315431
PheGenI	rs74315431
Biobank	rs74315431
1000 genomes	rs74315431
hgdp	rs74315431
ensembl	rs74315431
geneview	rs74315431
scholar	rs74315431
google	rs74315431
pharmgkb	rs74315431
gwascentral	rs74315431
openSNP	rs74315431
23andMe	rs74315431
SNPshot	rs74315431
SNPdbe	rs74315431
MSV3d	rs74315431
GWAS Ctlg	rs74315431

Max Magnitude

0

OMIM	605704
Desc
Variant	0001
Related	also

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 (protein) UniProtKB (variants)
CLNACC	RCV000005073.3, RCV000005074.3, RCV000005075.3, RCV000059635.1,

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