rs137852657
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs137852657(C;T) |
Make rs137852657(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 14 |
Position | 50591584 |
Gene | ATL1 |
is a | snp |
is | mentioned by |
dbSNP | rs137852657 |
dbSNP (classic) | rs137852657 |
ClinGen | rs137852657 |
ebi | rs137852657 |
HLI | rs137852657 |
Exac | rs137852657 |
Gnomad | rs137852657 |
Varsome | rs137852657 |
LitVar | rs137852657 |
Map | rs137852657 |
PheGenI | rs137852657 |
Biobank | rs137852657 |
1000 genomes | rs137852657 |
hgdp | rs137852657 |
ensembl | rs137852657 |
geneview | rs137852657 |
scholar | rs137852657 |
rs137852657 | |
pharmgkb | rs137852657 |
gwascentral | rs137852657 |
openSNP | rs137852657 |
23andMe | rs137852657 |
SNPshot | rs137852657 |
SNPdbe | rs137852657 |
MSV3d | rs137852657 |
GWAS Ctlg | rs137852657 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852657(T;T) |
Alt | rs137852657(T;T) |
Reference | Rs137852657(C;C) |
Significance | Pathogenic |
Disease | Spastic paraplegia 3 |
Variation | info |
Gene | ATL1 |
CLNDBN | Spastic paraplegia 3 |
Reversed | 0 |
HGVS | NC_000014.8:g.51058302C>T |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020721.2, |