rs762947018
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs762947018(G;T) |
Make rs762947018(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 13 |
Position | 23330903 |
Gene | SACS |
is a | snp |
is | mentioned by |
dbSNP | rs762947018 |
dbSNP (classic) | rs762947018 |
ClinGen | rs762947018 |
ebi | rs762947018 |
HLI | rs762947018 |
Exac | rs762947018 |
Gnomad | rs762947018 |
Varsome | rs762947018 |
LitVar | rs762947018 |
Map | rs762947018 |
PheGenI | rs762947018 |
Biobank | rs762947018 |
1000 genomes | rs762947018 |
hgdp | rs762947018 |
ensembl | rs762947018 |
geneview | rs762947018 |
scholar | rs762947018 |
rs762947018 | |
pharmgkb | rs762947018 |
gwascentral | rs762947018 |
openSNP | rs762947018 |
23andMe | rs762947018 |
SNPshot | rs762947018 |
SNPdbe | rs762947018 |
MSV3d | rs762947018 |
GWAS Ctlg | rs762947018 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs762947018(A;A) rs762947018(T;T) |
Alt | rs762947018(A;A) rs762947018(T;T) |
Reference | Rs762947018(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.23905042G>A |
CLNSRC | Counsyl |
CLNACC | RCV000169272.1, |