rs864622162
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs864622162(C;T) |
Make rs864622162(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 32141917 |
Gene | SPAST |
is a | snp |
is | mentioned by |
dbSNP | rs864622162 |
dbSNP (classic) | rs864622162 |
ClinGen | rs864622162 |
ebi | rs864622162 |
HLI | rs864622162 |
Exac | rs864622162 |
Gnomad | rs864622162 |
Varsome | rs864622162 |
LitVar | rs864622162 |
Map | rs864622162 |
PheGenI | rs864622162 |
Biobank | rs864622162 |
1000 genomes | rs864622162 |
hgdp | rs864622162 |
ensembl | rs864622162 |
geneview | rs864622162 |
scholar | rs864622162 |
rs864622162 | |
pharmgkb | rs864622162 |
gwascentral | rs864622162 |
openSNP | rs864622162 |
23andMe | rs864622162 |
SNPshot | rs864622162 |
SNPdbe | rs864622162 |
MSV3d | rs864622162 |
GWAS Ctlg | rs864622162 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs864622162(T;T) |
Alt | rs864622162(T;T) |
Reference | Rs864622162(C;C) |
Significance | Probable-Pathogenic |
Disease | Spastic paraplegia 4 |
Variation | info |
Gene | SPAST |
CLNDBN | Spastic paraplegia 4, autosomal dominant |
Reversed | 0 |
HGVS | NC_000002.11:g.32366986C>T |
CLNSRC | |
CLNACC | RCV000204046.1, |