rs186547381
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs186547381(C;T) |
Make rs186547381(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 16 |
Position | 31190398 |
Gene | FUS |
is a | snp |
is | mentioned by |
dbSNP | rs186547381 |
dbSNP (classic) | rs186547381 |
ClinGen | rs186547381 |
ebi | rs186547381 |
HLI | rs186547381 |
Exac | rs186547381 |
Gnomad | rs186547381 |
Varsome | rs186547381 |
LitVar | rs186547381 |
Map | rs186547381 |
PheGenI | rs186547381 |
Biobank | rs186547381 |
1000 genomes | rs186547381 |
hgdp | rs186547381 |
ensembl | rs186547381 |
geneview | rs186547381 |
scholar | rs186547381 |
rs186547381 | |
pharmgkb | rs186547381 |
gwascentral | rs186547381 |
openSNP | rs186547381 |
23andMe | rs186547381 |
SNPshot | rs186547381 |
SNPdbe | rs186547381 |
MSV3d | rs186547381 |
GWAS Ctlg | rs186547381 |
GMAF | 0.0009183 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs186547381(T;T) |
Alt | rs186547381(T;T) |
Reference | Rs186547381(C;C) |
Significance | Pathogenic |
Disease | Tremor |
Variation | info |
Gene | FUS |
CLNDBN | Tremor, hereditary essential, 4 |
Reversed | 0 |
HGVS | NC_000016.9:g.31201719C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000030718.24, |