rs142053576
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs142053576(A;G) |
Make rs142053576(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 32144945 |
Gene | SPAST |
is a | snp |
is | mentioned by |
dbSNP | rs142053576 |
dbSNP (classic) | rs142053576 |
ClinGen | rs142053576 |
ebi | rs142053576 |
HLI | rs142053576 |
Exac | rs142053576 |
Gnomad | rs142053576 |
Varsome | rs142053576 |
LitVar | rs142053576 |
Map | rs142053576 |
PheGenI | rs142053576 |
Biobank | rs142053576 |
1000 genomes | rs142053576 |
hgdp | rs142053576 |
ensembl | rs142053576 |
geneview | rs142053576 |
scholar | rs142053576 |
rs142053576 | |
pharmgkb | rs142053576 |
gwascentral | rs142053576 |
openSNP | rs142053576 |
23andMe | rs142053576 |
SNPshot | rs142053576 |
SNPdbe | rs142053576 |
MSV3d | rs142053576 |
GWAS Ctlg | rs142053576 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs142053576(G;G) |
Alt | rs142053576(G;G) |
Reference | Rs142053576(A;A) |
Significance | Probable-Pathogenic |
Disease | Spastic paraplegia 4 not provided |
Variation | info |
Gene | SPAST |
CLNDBN | Spastic paraplegia 4, autosomal dominant not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.32370014A>G |
CLNSRC | |
CLNACC | RCV000199081.1, RCV000486146.1, |