rs863224513
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs863224513(-;-) |
Make rs863224513(-;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 32128479 |
Gene | SPAST |
is a | snp |
is | mentioned by |
dbSNP | rs863224513 |
dbSNP (classic) | rs863224513 |
ClinGen | rs863224513 |
ebi | rs863224513 |
HLI | rs863224513 |
Exac | rs863224513 |
Gnomad | rs863224513 |
Varsome | rs863224513 |
LitVar | rs863224513 |
Map | rs863224513 |
PheGenI | rs863224513 |
Biobank | rs863224513 |
1000 genomes | rs863224513 |
hgdp | rs863224513 |
ensembl | rs863224513 |
geneview | rs863224513 |
scholar | rs863224513 |
rs863224513 | |
pharmgkb | rs863224513 |
gwascentral | rs863224513 |
openSNP | rs863224513 |
23andMe | rs863224513 |
SNPshot | rs863224513 |
SNPdbe | rs863224513 |
MSV3d | rs863224513 |
GWAS Ctlg | rs863224513 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224513(-;-) |
Alt | rs863224513(-;-) |
Reference | Rs863224513(C;C) |
Significance | Pathogenic |
Disease | Spastic paraplegia 4 |
Variation | info |
Gene | SPAST |
CLNDBN | Spastic paraplegia 4, autosomal dominant |
Reversed | 0 |
HGVS | NC_000002.11:g.32353548delC |
CLNSRC | |
CLNACC | RCV000200188.1, |