rs281875284
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs281875284(C;T) |
Make rs281875284(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 58418289 |
Gene | VAPB |
is a | snp |
is | mentioned by |
dbSNP | rs281875284 |
dbSNP (classic) | rs281875284 |
ClinGen | rs281875284 |
ebi | rs281875284 |
HLI | rs281875284 |
Exac | rs281875284 |
Gnomad | rs281875284 |
Varsome | rs281875284 |
LitVar | rs281875284 |
Map | rs281875284 |
PheGenI | rs281875284 |
Biobank | rs281875284 |
1000 genomes | rs281875284 |
hgdp | rs281875284 |
ensembl | rs281875284 |
geneview | rs281875284 |
scholar | rs281875284 |
rs281875284 | |
pharmgkb | rs281875284 |
gwascentral | rs281875284 |
openSNP | rs281875284 |
23andMe | rs281875284 |
SNPshot | rs281875284 |
SNPdbe | rs281875284 |
MSV3d | rs281875284 |
GWAS Ctlg | rs281875284 |
Max Magnitude | 0 |
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 (protein) UniProtKB (variants) |
CLNACC | RCV000023467.3, RCV000059634.1, |
[PMID 20940299] Characterization of the properties of a novel mutation in VAPB in familial amyotrophic lateral sclerosis.