rs4884357
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs4884357(A;A) |
Make rs4884357(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 11022301 |
Gene | TARDBP |
is a | snp |
is | mentioned by |
dbSNP | rs4884357 |
dbSNP (classic) | rs4884357 |
ClinGen | rs4884357 |
ebi | rs4884357 |
HLI | rs4884357 |
Exac | rs4884357 |
Gnomad | rs4884357 |
Varsome | rs4884357 |
LitVar | rs4884357 |
Map | rs4884357 |
PheGenI | rs4884357 |
Biobank | rs4884357 |
1000 genomes | rs4884357 |
hgdp | rs4884357 |
ensembl | rs4884357 |
geneview | rs4884357 |
scholar | rs4884357 |
rs4884357 | |
pharmgkb | rs4884357 |
gwascentral | rs4884357 |
openSNP | rs4884357 |
23andMe | rs4884357 |
SNPshot | rs4884357 |
SNPdbe | rs4884357 |
MSV3d | rs4884357 |
GWAS Ctlg | rs4884357 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs4884357(A;A) |
Alt | rs4884357(A;A) |
Reference | Rs4884357(G;G) |
Significance | Pathogenic |
Disease | Amyotrophic lateral sclerosis type 10 |
Variation | info |
Gene | TARDBP |
CLNDBN | Amyotrophic lateral sclerosis type 10 |
Reversed | 0 |
HGVS | NC_000001.10:g.11082358G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005543.4, |
[PMID 18396105] TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.