rs121908228
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908228(C;T) |
Make rs121908228(T;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 19 |
Position | 13365344 |
Gene | CACNA1A |
is a | snp |
is | mentioned by |
dbSNP | rs121908228 |
dbSNP (classic) | rs121908228 |
ClinGen | rs121908228 |
ebi | rs121908228 |
HLI | rs121908228 |
Exac | rs121908228 |
Gnomad | rs121908228 |
Varsome | rs121908228 |
LitVar | rs121908228 |
Map | rs121908228 |
PheGenI | rs121908228 |
Biobank | rs121908228 |
1000 genomes | rs121908228 |
hgdp | rs121908228 |
ensembl | rs121908228 |
geneview | rs121908228 |
scholar | rs121908228 |
rs121908228 | |
pharmgkb | rs121908228 |
gwascentral | rs121908228 |
openSNP | rs121908228 |
23andMe | rs121908228 |
SNPshot | rs121908228 |
SNPdbe | rs121908228 |
MSV3d | rs121908228 |
GWAS Ctlg | rs121908228 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908228(T;T) |
Alt | rs121908228(T;T) |
Reference | Rs121908228(C;C) |
Significance | Probable-Pathogenic |
Disease | Episodic ataxia type 2 |
Variation | info |
Gene | CACNA1A |
CLNDBN | Episodic ataxia type 2 |
Reversed | 1 |
HGVS | NC_000019.9:g.13476158G>A |
CLNSRC | UniProtKB (variants) |
CLNACC | RCV000059312.2, |