rs765992922
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs765992922(-;-) |
Make rs765992922(-;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 13 |
Position | 23335003 |
Gene | SACS |
is a | snp |
is | mentioned by |
dbSNP | rs765992922 |
dbSNP (classic) | rs765992922 |
ClinGen | rs765992922 |
ebi | rs765992922 |
HLI | rs765992922 |
Exac | rs765992922 |
Gnomad | rs765992922 |
Varsome | rs765992922 |
LitVar | rs765992922 |
Map | rs765992922 |
PheGenI | rs765992922 |
Biobank | rs765992922 |
1000 genomes | rs765992922 |
hgdp | rs765992922 |
ensembl | rs765992922 |
geneview | rs765992922 |
scholar | rs765992922 |
rs765992922 | |
pharmgkb | rs765992922 |
gwascentral | rs765992922 |
openSNP | rs765992922 |
23andMe | rs765992922 |
SNPshot | rs765992922 |
SNPdbe | rs765992922 |
MSV3d | rs765992922 |
GWAS Ctlg | rs765992922 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs765992922(-;-) |
Alt | rs765992922(-;-) |
Reference | Rs765992922(T;T) |
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.23909142delT |
CLNSRC | |
CLNACC | RCV000409008.1, |