rs773840580
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs773840580(-;T) |
Make rs773840580(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 23340547 |
Gene | SACS |
is a | snp |
is | mentioned by |
dbSNP | rs773840580 |
dbSNP (classic) | rs773840580 |
ClinGen | rs773840580 |
ebi | rs773840580 |
HLI | rs773840580 |
Exac | rs773840580 |
Gnomad | rs773840580 |
Varsome | rs773840580 |
LitVar | rs773840580 |
Map | rs773840580 |
PheGenI | rs773840580 |
Biobank | rs773840580 |
1000 genomes | rs773840580 |
hgdp | rs773840580 |
ensembl | rs773840580 |
geneview | rs773840580 |
scholar | rs773840580 |
rs773840580 | |
pharmgkb | rs773840580 |
gwascentral | rs773840580 |
openSNP | rs773840580 |
23andMe | rs773840580 |
SNPshot | rs773840580 |
SNPdbe | rs773840580 |
MSV3d | rs773840580 |
GWAS Ctlg | rs773840580 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs773840580(T;T) |
Alt | rs773840580(T;T) |
Reference | Rs773840580(-;-) |
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.23914687dupT |
CLNSRC | Counsyl |
CLNACC | RCV000169583.1, |