rs786200962
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs786200962(-;-) |
Make rs786200962(-;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 19 |
Position | 13298768 |
Gene | CACNA1A |
is a | snp |
is | mentioned by |
dbSNP | rs786200962 |
dbSNP (classic) | rs786200962 |
ClinGen | rs786200962 |
ebi | rs786200962 |
HLI | rs786200962 |
Exac | rs786200962 |
Gnomad | rs786200962 |
Varsome | rs786200962 |
LitVar | rs786200962 |
Map | rs786200962 |
PheGenI | rs786200962 |
Biobank | rs786200962 |
1000 genomes | rs786200962 |
hgdp | rs786200962 |
ensembl | rs786200962 |
geneview | rs786200962 |
scholar | rs786200962 |
rs786200962 | |
pharmgkb | rs786200962 |
gwascentral | rs786200962 |
openSNP | rs786200962 |
23andMe | rs786200962 |
SNPshot | rs786200962 |
SNPdbe | rs786200962 |
MSV3d | rs786200962 |
GWAS Ctlg | rs786200962 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786200962(-;-) |
Alt | rs786200962(-;-) |
Reference | Rs786200962(T;T) |
Significance | Pathogenic |
Disease | Episodic ataxia type 2 |
Variation | info |
Gene | CACNA1A |
CLNDBN | Episodic ataxia type 2 |
Reversed | 1 |
HGVS | NC_000019.9:g.13409582delA |
CLNSRC | |
CLNACC | RCV000169640.1, |