rs281864934
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs281864934(A;A) |
Make rs281864934(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 3 |
Position | 87245898 |
Gene | CHMP2B |
is a | snp |
is | mentioned by |
dbSNP | rs281864934 |
dbSNP (classic) | rs281864934 |
ClinGen | rs281864934 |
ebi | rs281864934 |
HLI | rs281864934 |
Exac | rs281864934 |
Gnomad | rs281864934 |
Varsome | rs281864934 |
LitVar | rs281864934 |
Map | rs281864934 |
PheGenI | rs281864934 |
Biobank | rs281864934 |
1000 genomes | rs281864934 |
hgdp | rs281864934 |
ensembl | rs281864934 |
geneview | rs281864934 |
scholar | rs281864934 |
rs281864934 | |
pharmgkb | rs281864934 |
gwascentral | rs281864934 |
openSNP | rs281864934 |
23andMe | rs281864934 |
SNPshot | rs281864934 |
SNPdbe | rs281864934 |
MSV3d | rs281864934 |
GWAS Ctlg | rs281864934 |
Max Magnitude | 0 |
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, |