rs750331613
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs750331613(C;T) |
Make rs750331613(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 4 |
Position | 93515346 |
Gene | GRID2 |
is a | snp |
is | mentioned by |
dbSNP | rs750331613 |
dbSNP (classic) | rs750331613 |
ClinGen | rs750331613 |
ebi | rs750331613 |
HLI | rs750331613 |
Exac | rs750331613 |
Gnomad | rs750331613 |
Varsome | rs750331613 |
LitVar | rs750331613 |
Map | rs750331613 |
PheGenI | rs750331613 |
Biobank | rs750331613 |
1000 genomes | rs750331613 |
hgdp | rs750331613 |
ensembl | rs750331613 |
geneview | rs750331613 |
scholar | rs750331613 |
rs750331613 | |
pharmgkb | rs750331613 |
gwascentral | rs750331613 |
openSNP | rs750331613 |
23andMe | rs750331613 |
SNPshot | rs750331613 |
SNPdbe | rs750331613 |
MSV3d | rs750331613 |
GWAS Ctlg | rs750331613 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs750331613(T;T) |
Alt | rs750331613(T;T) |
Reference | Rs750331613(C;C) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia |
Variation | info |
Gene | GRID2 |
CLNDBN | Spinocerebellar ataxia, autosomal recessive 18 |
Reversed | 0 |
HGVS | NC_000004.11:g.94436497C>T |
CLNSRC | |
CLNACC | RCV000490816.1, |