rs765592794
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs765592794(C;T) |
Make rs765592794(T;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 3 |
Position | 43600383 |
Gene | ANO10 |
is a | snp |
is | mentioned by |
dbSNP | rs765592794 |
dbSNP (classic) | rs765592794 |
ClinGen | rs765592794 |
ebi | rs765592794 |
HLI | rs765592794 |
Exac | rs765592794 |
Gnomad | rs765592794 |
Varsome | rs765592794 |
LitVar | rs765592794 |
Map | rs765592794 |
PheGenI | rs765592794 |
Biobank | rs765592794 |
1000 genomes | rs765592794 |
hgdp | rs765592794 |
ensembl | rs765592794 |
geneview | rs765592794 |
scholar | rs765592794 |
rs765592794 | |
pharmgkb | rs765592794 |
gwascentral | rs765592794 |
openSNP | rs765592794 |
23andMe | rs765592794 |
SNPshot | rs765592794 |
SNPdbe | rs765592794 |
MSV3d | rs765592794 |
GWAS Ctlg | rs765592794 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs765592794(T;T) |
Alt | rs765592794(T;T) |
Reference | Rs765592794(C;C) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia |
Variation | info |
Gene | ANO10 |
CLNDBN | Spinocerebellar ataxia, autosomal recessive 10 |
Reversed | 0 |
HGVS | NC_000003.11:g.43641875C>T |
CLNSRC | |
CLNACC | RCV000193666.1, |