rs146859515
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs146859515(A;A) |
Make rs146859515(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 66705395 |
Gene | SPTBN2 |
is a | snp |
is | mentioned by |
dbSNP | rs146859515 |
dbSNP (classic) | rs146859515 |
ClinGen | rs146859515 |
ebi | rs146859515 |
HLI | rs146859515 |
Exac | rs146859515 |
Gnomad | rs146859515 |
Varsome | rs146859515 |
LitVar | rs146859515 |
Map | rs146859515 |
PheGenI | rs146859515 |
Biobank | rs146859515 |
1000 genomes | rs146859515 |
hgdp | rs146859515 |
ensembl | rs146859515 |
geneview | rs146859515 |
scholar | rs146859515 |
rs146859515 | |
pharmgkb | rs146859515 |
gwascentral | rs146859515 |
openSNP | rs146859515 |
23andMe | rs146859515 |
SNPshot | rs146859515 |
SNPdbe | rs146859515 |
MSV3d | rs146859515 |
GWAS Ctlg | rs146859515 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs146859515(A;A) rs146859515(T;T) |
Alt | rs146859515(A;A) rs146859515(T;T) |
Reference | Rs146859515(G;G) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia |
Variation | info |
Gene | SPTBN2 |
CLNDBN | Spinocerebellar ataxia, autosomal recessive 14 |
Reversed | 0 |
HGVS | NC_000011.9:g.66472866G>T |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000054553.4, |