rs587776694
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587776694(-;C) |
Make rs587776694(C;C) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 13298820 |
Gene | CACNA1A |
is a | snp |
is | mentioned by |
dbSNP | rs587776694 |
dbSNP (classic) | rs587776694 |
ClinGen | rs587776694 |
ebi | rs587776694 |
HLI | rs587776694 |
Exac | rs587776694 |
Gnomad | rs587776694 |
Varsome | rs587776694 |
LitVar | rs587776694 |
Map | rs587776694 |
PheGenI | rs587776694 |
Biobank | rs587776694 |
1000 genomes | rs587776694 |
hgdp | rs587776694 |
ensembl | rs587776694 |
geneview | rs587776694 |
scholar | rs587776694 |
rs587776694 | |
pharmgkb | rs587776694 |
gwascentral | rs587776694 |
openSNP | rs587776694 |
23andMe | rs587776694 |
SNPshot | rs587776694 |
SNPdbe | rs587776694 |
MSV3d | rs587776694 |
GWAS Ctlg | rs587776694 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587776694(C;C) |
Alt | rs587776694(C;C) |
Reference | Rs587776694(-;-) |
Significance | Pathogenic |
Disease | Episodic ataxia type 2 |
Variation | info |
Gene | CACNA1A |
CLNDBN | Episodic ataxia type 2 |
Reversed | 0 |
HGVS | NC_000019.9:g.13409634dupC |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000009024.3, |