rs80356730
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs80356730(A;G) |
Make rs80356730(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 1 |
Position | 11022418 |
Gene | TARDBP |
is a | snp |
is | mentioned by |
dbSNP | rs80356730 |
dbSNP (classic) | rs80356730 |
ClinGen | rs80356730 |
ebi | rs80356730 |
HLI | rs80356730 |
Exac | rs80356730 |
Gnomad | rs80356730 |
Varsome | rs80356730 |
LitVar | rs80356730 |
Map | rs80356730 |
PheGenI | rs80356730 |
Biobank | rs80356730 |
1000 genomes | rs80356730 |
hgdp | rs80356730 |
ensembl | rs80356730 |
geneview | rs80356730 |
scholar | rs80356730 |
rs80356730 | |
pharmgkb | rs80356730 |
gwascentral | rs80356730 |
openSNP | rs80356730 |
23andMe | rs80356730 |
SNPshot | rs80356730 |
SNPdbe | rs80356730 |
MSV3d | rs80356730 |
GWAS Ctlg | rs80356730 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs80356730(G;G) |
Alt | rs80356730(G;G) |
Reference | Rs80356730(A;A) |
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.11082475A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005539.3, |
[PMID 18309045] TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.