rs1057517450
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 8 | Canavan disease (predicted) |
(-;AGAA) | 3 | Carrier of a Canavan disease mutation |
(AAAG;AAAG) | 0 | common in clinvar |
(AGAA;AGAA) | 0 | common/normal |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 17 |
Position | 3499022 |
Gene | ASPA, SPATA22 |
is a | snp |
is | mentioned by |
dbSNP | rs1057517450 |
dbSNP (classic) | rs1057517450 |
ClinGen | rs1057517450 |
ebi | rs1057517450 |
HLI | rs1057517450 |
Exac | rs1057517450 |
Gnomad | rs1057517450 |
Varsome | rs1057517450 |
LitVar | rs1057517450 |
Map | rs1057517450 |
PheGenI | rs1057517450 |
Biobank | rs1057517450 |
1000 genomes | rs1057517450 |
hgdp | rs1057517450 |
ensembl | rs1057517450 |
geneview | rs1057517450 |
scholar | rs1057517450 |
rs1057517450 | |
pharmgkb | rs1057517450 |
gwascentral | rs1057517450 |
openSNP | rs1057517450 |
23andMe | rs1057517450 |
SNPshot | rs1057517450 |
SNPdbe | rs1057517450 |
MSV3d | rs1057517450 |
GWAS Ctlg | rs1057517450 |
Max Magnitude | 8 |
ClinVar | |
---|---|
Risk | Rs1057517450(-;-) |
Alt | Rs1057517450(-;-) |
Reference | Rs1057517450(AAAG;AAAG) |
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.3402316_3402319delAGAA |
CLNSRC | |
CLNACC | RCV000409212.1, |