rs786204572
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 8 | Canavan disease (predicted) |
(A;C) | 3 | Carrier of a Canavan disease mutation |
(C;C) | 0 | common in clinvar |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 3489249 |
Gene | ASPA, SPATA22 |
is a | snp |
is | mentioned by |
dbSNP | rs786204572 |
dbSNP (classic) | rs786204572 |
ClinGen | rs786204572 |
ebi | rs786204572 |
HLI | rs786204572 |
Exac | rs786204572 |
Gnomad | rs786204572 |
Varsome | rs786204572 |
LitVar | rs786204572 |
Map | rs786204572 |
PheGenI | rs786204572 |
Biobank | rs786204572 |
1000 genomes | rs786204572 |
hgdp | rs786204572 |
ensembl | rs786204572 |
geneview | rs786204572 |
scholar | rs786204572 |
rs786204572 | |
pharmgkb | rs786204572 |
gwascentral | rs786204572 |
openSNP | rs786204572 |
23andMe | rs786204572 |
SNPshot | rs786204572 |
SNPdbe | rs786204572 |
MSV3d | rs786204572 |
GWAS Ctlg | rs786204572 |
Max Magnitude | 8 |
ClinVar | |
---|---|
Risk | Rs786204572(A;A) |
Alt | Rs786204572(A;A) |
Reference | Rs786204572(C;C) |
Significance | Probable-Pathogenic |
Disease | Spongy degeneration of central nervous system |
Variation | info |
Gene | SPATA22 ASPA |
CLNDBN | Spongy degeneration of central nervous system |
Reversed | 0 |
HGVS | NC_000017.10:g.3392543C>A |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000169314.1, |