rs761213683
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs761213683(A;A) |
Make rs761213683(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 3 |
Position | 43561219 |
Gene | ANO10 |
is a | snp |
is | mentioned by |
dbSNP | rs761213683 |
dbSNP (classic) | rs761213683 |
ClinGen | rs761213683 |
ebi | rs761213683 |
HLI | rs761213683 |
Exac | rs761213683 |
Gnomad | rs761213683 |
Varsome | rs761213683 |
LitVar | rs761213683 |
Map | rs761213683 |
PheGenI | rs761213683 |
Biobank | rs761213683 |
1000 genomes | rs761213683 |
hgdp | rs761213683 |
ensembl | rs761213683 |
geneview | rs761213683 |
scholar | rs761213683 |
rs761213683 | |
pharmgkb | rs761213683 |
gwascentral | rs761213683 |
openSNP | rs761213683 |
23andMe | rs761213683 |
SNPshot | rs761213683 |
SNPdbe | rs761213683 |
MSV3d | rs761213683 |
GWAS Ctlg | rs761213683 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs761213683(A;A) rs761213683(T;T) |
Alt | rs761213683(A;A) rs761213683(T;T) |
Reference | Rs761213683(C;C) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia |
Variation | info |
Gene | ANO10 |
CLNDBN | Spinocerebellar ataxia, autosomal recessive 10 |
Reversed | 0 |
HGVS | NC_000003.11:g.43602711C>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000024053.4, |