rs756751089
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs756751089(A;G) |
Make rs756751089(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 64485466 |
Gene | TBK1 |
is a | snp |
is | mentioned by |
dbSNP | rs756751089 |
dbSNP (classic) | rs756751089 |
ClinGen | rs756751089 |
ebi | rs756751089 |
HLI | rs756751089 |
Exac | rs756751089 |
Gnomad | rs756751089 |
Varsome | rs756751089 |
LitVar | rs756751089 |
Map | rs756751089 |
PheGenI | rs756751089 |
Biobank | rs756751089 |
1000 genomes | rs756751089 |
hgdp | rs756751089 |
ensembl | rs756751089 |
geneview | rs756751089 |
scholar | rs756751089 |
rs756751089 | |
pharmgkb | rs756751089 |
gwascentral | rs756751089 |
openSNP | rs756751089 |
23andMe | rs756751089 |
SNPshot | rs756751089 |
SNPdbe | rs756751089 |
MSV3d | rs756751089 |
GWAS Ctlg | rs756751089 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs756751089(G;G) |
Alt | rs756751089(G;G) |
Reference | Rs756751089(A;A) |
Significance | Pathogenic |
Disease | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
Variation | info |
Gene | TBK1 |
CLNDBN | Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 |
Reversed | 0 |
HGVS | NC_000012.11:g.64879246A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000185601.2, |