rs775059063
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AT;AT) | 0 | common in clinvar |
Make rs775059063(-;-) |
Make rs775059063(-;AT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 23341436 |
Gene | SACS |
is a | snp |
is | mentioned by |
dbSNP | rs775059063 |
dbSNP (classic) | rs775059063 |
ClinGen | rs775059063 |
ebi | rs775059063 |
HLI | rs775059063 |
Exac | rs775059063 |
Gnomad | rs775059063 |
Varsome | rs775059063 |
LitVar | rs775059063 |
Map | rs775059063 |
PheGenI | rs775059063 |
Biobank | rs775059063 |
1000 genomes | rs775059063 |
hgdp | rs775059063 |
ensembl | rs775059063 |
geneview | rs775059063 |
scholar | rs775059063 |
rs775059063 | |
pharmgkb | rs775059063 |
gwascentral | rs775059063 |
openSNP | rs775059063 |
23andMe | rs775059063 |
SNPshot | rs775059063 |
SNPdbe | rs775059063 |
MSV3d | rs775059063 |
GWAS Ctlg | rs775059063 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775059063(-;-) |
Alt | rs775059063(-;-) |
Reference | Rs775059063(AT;AT) |
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.23915575_23915576delAT |
CLNSRC | Counsyl |
CLNACC | RCV000169208.1, |