rs121918306
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121918306(C;C) |
Make rs121918306(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 66713645 |
Gene | SPTBN2 |
is a | snp |
is | mentioned by |
dbSNP | rs121918306 |
dbSNP (classic) | rs121918306 |
ClinGen | rs121918306 |
ebi | rs121918306 |
HLI | rs121918306 |
Exac | rs121918306 |
Gnomad | rs121918306 |
Varsome | rs121918306 |
LitVar | rs121918306 |
Map | rs121918306 |
PheGenI | rs121918306 |
Biobank | rs121918306 |
1000 genomes | rs121918306 |
hgdp | rs121918306 |
ensembl | rs121918306 |
geneview | rs121918306 |
scholar | rs121918306 |
rs121918306 | |
pharmgkb | rs121918306 |
gwascentral | rs121918306 |
openSNP | rs121918306 |
23andMe | rs121918306 |
SNPshot | rs121918306 |
SNPdbe | rs121918306 |
MSV3d | rs121918306 |
GWAS Ctlg | rs121918306 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121918306(C;C) |
Alt | rs121918306(C;C) |
Reference | Rs121918306(T;T) |
Significance | Pathogenic |
Disease | Spinocerebellar ataxia 5 |
Variation | info |
Gene | SPTBN2 |
CLNDBN | Spinocerebellar ataxia 5 |
Reversed | 1 |
HGVS | NC_000011.9:g.66481116A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000005593.4, |