rs63751297
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
(A;G) | 3 | Carrier of a Canavan disease mutation |
(G;G) | 8 | Canavan disease (predicted) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 17 |
Position | 3483497 |
Gene | ASPA, SPATA22 |
is a | snp |
is | mentioned by |
dbSNP | rs63751297 |
dbSNP (classic) | rs63751297 |
ClinGen | rs63751297 |
ebi | rs63751297 |
HLI | rs63751297 |
Exac | rs63751297 |
Gnomad | rs63751297 |
Varsome | rs63751297 |
LitVar | rs63751297 |
Map | rs63751297 |
PheGenI | rs63751297 |
Biobank | rs63751297 |
1000 genomes | rs63751297 |
hgdp | rs63751297 |
ensembl | rs63751297 |
geneview | rs63751297 |
scholar | rs63751297 |
rs63751297 | |
pharmgkb | rs63751297 |
gwascentral | rs63751297 |
openSNP | rs63751297 |
23andMe | rs63751297 |
SNPshot | rs63751297 |
SNPdbe | rs63751297 |
MSV3d | rs63751297 |
GWAS Ctlg | rs63751297 |
Max Magnitude | 8 |
ClinVar | |
---|---|
Risk | Rs63751297(G;G) |
Alt | Rs63751297(G;G) |
Reference | Rs63751297(A;A) |
Significance | 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.3386791A>G |
CLNSRC | |
CLNACC | RCV000176967.1, |