rs565203731
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs565203731(A;A) |
Make rs565203731(A;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 13 |
Position | 23332502 |
Gene | SACS |
is a | snp |
is | mentioned by |
dbSNP | rs565203731 |
dbSNP (classic) | rs565203731 |
ClinGen | rs565203731 |
ebi | rs565203731 |
HLI | rs565203731 |
Exac | rs565203731 |
Gnomad | rs565203731 |
Varsome | rs565203731 |
LitVar | rs565203731 |
Map | rs565203731 |
PheGenI | rs565203731 |
Biobank | rs565203731 |
1000 genomes | rs565203731 |
hgdp | rs565203731 |
ensembl | rs565203731 |
geneview | rs565203731 |
scholar | rs565203731 |
rs565203731 | |
pharmgkb | rs565203731 |
gwascentral | rs565203731 |
openSNP | rs565203731 |
23andMe | rs565203731 |
SNPshot | rs565203731 |
SNPdbe | rs565203731 |
MSV3d | rs565203731 |
GWAS Ctlg | rs565203731 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs565203731(A;A) rs565203731(C;C) |
Alt | rs565203731(A;A) rs565203731(C;C) |
Reference | Rs565203731(G;G) |
Significance | Probable-Pathogenic |
Disease | Spastic ataxia Charlevoix-Saguenay type |
Variation | info |
Gene | SACS |
CLNDBN | Spastic ataxia Charlevoix-Saguenay type |
Reversed | 0 |
HGVS | NC_000013.10:g.23906641G>A |
CLNSRC | |
CLNACC | RCV000411243.1, |