rs144272231
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs144272231(C;T) |
Make rs144272231(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 3 |
Position | 43576710 |
Gene | ANO10 |
is a | snp |
is | mentioned by |
dbSNP | rs144272231 |
dbSNP (classic) | rs144272231 |
ClinGen | rs144272231 |
ebi | rs144272231 |
HLI | rs144272231 |
Exac | rs144272231 |
Gnomad | rs144272231 |
Varsome | rs144272231 |
LitVar | rs144272231 |
Map | rs144272231 |
PheGenI | rs144272231 |
Biobank | rs144272231 |
1000 genomes | rs144272231 |
hgdp | rs144272231 |
ensembl | rs144272231 |
geneview | rs144272231 |
scholar | rs144272231 |
rs144272231 | |
pharmgkb | rs144272231 |
gwascentral | rs144272231 |
openSNP | rs144272231 |
23andMe | rs144272231 |
SNPshot | rs144272231 |
SNPdbe | rs144272231 |
MSV3d | rs144272231 |
GWAS Ctlg | rs144272231 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs144272231(A;A) rs144272231(T;T) |
Alt | rs144272231(A;A) rs144272231(T;T) |
Reference | Rs144272231(C;C) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia |
Variation | info |
Gene | ANO10 |
CLNDBN | Spinocerebellar ataxia, autosomal recessive 10 |
Reversed | 0 |
HGVS | NC_000003.11:g.43618202C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000149439.4, |