rs1057516962
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 8 | Canavan disease (predicted) |
(-;T) | 3 | Carrier of a Canavan disease mutation |
(T;T) | 0 | common in clinvar |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 3481611 |
Gene | ASPA, SPATA22 |
is a | snp |
is | mentioned by |
dbSNP | rs1057516962 |
dbSNP (classic) | rs1057516962 |
ClinGen | rs1057516962 |
ebi | rs1057516962 |
HLI | rs1057516962 |
Exac | rs1057516962 |
Gnomad | rs1057516962 |
Varsome | rs1057516962 |
LitVar | rs1057516962 |
Map | rs1057516962 |
PheGenI | rs1057516962 |
Biobank | rs1057516962 |
1000 genomes | rs1057516962 |
hgdp | rs1057516962 |
ensembl | rs1057516962 |
geneview | rs1057516962 |
scholar | rs1057516962 |
rs1057516962 | |
pharmgkb | rs1057516962 |
gwascentral | rs1057516962 |
openSNP | rs1057516962 |
23andMe | rs1057516962 |
SNPshot | rs1057516962 |
SNPdbe | rs1057516962 |
MSV3d | rs1057516962 |
GWAS Ctlg | rs1057516962 |
Max Magnitude | 8 |
ClinVar | |
---|---|
Risk | Rs1057516962(-;-) |
Alt | Rs1057516962(-;-) |
Reference | Rs1057516962(T;T) |
Significance | Probable-Pathogenic |
Disease | Spongy degeneration of central nervous system |
Variation | info |
Gene | ASPA SPATA22 |
CLNDBN | Spongy degeneration of central nervous system |
Reversed | 0 |
HGVS | NC_000017.10:g.3384905delT |
CLNSRC | |
CLNACC | RCV000410405.1, |