rs786200963
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs786200963(A;A) |
Make rs786200963(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 19 |
Position | 13371683 |
Gene | CACNA1A |
is a | snp |
is | mentioned by |
dbSNP | rs786200963 |
dbSNP (classic) | rs786200963 |
ClinGen | rs786200963 |
ebi | rs786200963 |
HLI | rs786200963 |
Exac | rs786200963 |
Gnomad | rs786200963 |
Varsome | rs786200963 |
LitVar | rs786200963 |
Map | rs786200963 |
PheGenI | rs786200963 |
Biobank | rs786200963 |
1000 genomes | rs786200963 |
hgdp | rs786200963 |
ensembl | rs786200963 |
geneview | rs786200963 |
scholar | rs786200963 |
rs786200963 | |
pharmgkb | rs786200963 |
gwascentral | rs786200963 |
openSNP | rs786200963 |
23andMe | rs786200963 |
SNPshot | rs786200963 |
SNPdbe | rs786200963 |
MSV3d | rs786200963 |
GWAS Ctlg | rs786200963 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786200963(A;A) |
Alt | rs786200963(A;A) |
Reference | Rs786200963(G;G) |
Significance | Probable-Pathogenic |
Disease | Episodic ataxia type 2 |
Variation | info |
Gene | CACNA1A |
CLNDBN | Episodic ataxia type 2 |
Reversed | 1 |
HGVS | NC_000019.9:g.13482497C>T |
CLNSRC | |
CLNACC | RCV000169641.1, |