rs148297332
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs148297332(A;A) |
Make rs148297332(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | 13 |
Position | 23331848 |
Gene | SACS |
is a | snp |
is | mentioned by |
dbSNP | rs148297332 |
dbSNP (classic) | rs148297332 |
ClinGen | rs148297332 |
ebi | rs148297332 |
HLI | rs148297332 |
Exac | rs148297332 |
Gnomad | rs148297332 |
Varsome | rs148297332 |
LitVar | rs148297332 |
Map | rs148297332 |
PheGenI | rs148297332 |
Biobank | rs148297332 |
1000 genomes | rs148297332 |
hgdp | rs148297332 |
ensembl | rs148297332 |
geneview | rs148297332 |
scholar | rs148297332 |
rs148297332 | |
pharmgkb | rs148297332 |
gwascentral | rs148297332 |
openSNP | rs148297332 |
23andMe | rs148297332 |
SNPshot | rs148297332 |
SNPdbe | rs148297332 |
MSV3d | rs148297332 |
GWAS Ctlg | rs148297332 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs148297332(A;A) |
Alt | rs148297332(A;A) |
Reference | Rs148297332(G;G) |
Significance | Pathogenic |
Disease | Spastic ataxia Charlevoix-Saguenay type |
Variation | info |
Gene | SACS |
CLNDBN | Spastic ataxia Charlevoix-Saguenay type |
Reversed | 0 |
HGVS | NC_000013.10:g.23905987G>A |
CLNSRC | |
CLNACC | RCV000322018.1, |