rs786204628
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGAG;AGAG) | 0 | common in clinvar |
Make rs786204628(-;-) |
Make rs786204628(-;AGAG) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 13 |
Position | 23331022 |
Gene | SACS |
is a | snp |
is | mentioned by |
dbSNP | rs786204628 |
dbSNP (classic) | rs786204628 |
ClinGen | rs786204628 |
ebi | rs786204628 |
HLI | rs786204628 |
Exac | rs786204628 |
Gnomad | rs786204628 |
Varsome | rs786204628 |
LitVar | rs786204628 |
Map | rs786204628 |
PheGenI | rs786204628 |
Biobank | rs786204628 |
1000 genomes | rs786204628 |
hgdp | rs786204628 |
ensembl | rs786204628 |
geneview | rs786204628 |
scholar | rs786204628 |
rs786204628 | |
pharmgkb | rs786204628 |
gwascentral | rs786204628 |
openSNP | rs786204628 |
23andMe | rs786204628 |
SNPshot | rs786204628 |
SNPdbe | rs786204628 |
MSV3d | rs786204628 |
GWAS Ctlg | rs786204628 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786204628(-;-) |
Alt | rs786204628(-;-) |
Reference | Rs786204628(AGAG;AGAG) |
Significance | Probable-Pathogenic |
Disease | Spastic ataxia Charlevoix-Saguenay type |
Variation | info |
Gene | SACS |
CLNDBN | Spastic ataxia Charlevoix-Saguenay type |
Reversed | 1 |
HGVS | NC_000013.10:g.23905161_23905164delCTCT |
CLNSRC | Counsyl |
CLNACC | RCV000169401.1, |