rs137852658
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs137852658(-;G) |
Make rs137852658(G;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 14 |
Position | 50628181 |
Gene | ATL1 |
is a | snp |
is | mentioned by |
dbSNP | rs137852658 |
dbSNP (classic) | rs137852658 |
ClinGen | rs137852658 |
ebi | rs137852658 |
HLI | rs137852658 |
Exac | rs137852658 |
Gnomad | rs137852658 |
Varsome | rs137852658 |
LitVar | rs137852658 |
Map | rs137852658 |
PheGenI | rs137852658 |
Biobank | rs137852658 |
1000 genomes | rs137852658 |
hgdp | rs137852658 |
ensembl | rs137852658 |
geneview | rs137852658 |
scholar | rs137852658 |
rs137852658 | |
pharmgkb | rs137852658 |
gwascentral | rs137852658 |
openSNP | rs137852658 |
23andMe | rs137852658 |
SNPshot | rs137852658 |
SNPdbe | rs137852658 |
MSV3d | rs137852658 |
GWAS Ctlg | rs137852658 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852658(G;G) |
Alt | rs137852658(G;G) |
Reference | Rs137852658(;) |
Significance | Pathogenic |
Disease | Spastic paraplegia 3 |
Variation | info |
Gene | ATL1 |
CLNDBN | Spastic paraplegia 3 |
Reversed | 0 |
HGVS | NC_000014.9:g.50628430A\x3d |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020718.1, |