rs121908233
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs121908233(C;C) |
Make rs121908233(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 13257474 |
Gene | CACNA1A |
is a | snp |
is | mentioned by |
dbSNP | rs121908233 |
dbSNP (classic) | rs121908233 |
ClinGen | rs121908233 |
ebi | rs121908233 |
HLI | rs121908233 |
Exac | rs121908233 |
Gnomad | rs121908233 |
Varsome | rs121908233 |
LitVar | rs121908233 |
Map | rs121908233 |
PheGenI | rs121908233 |
Biobank | rs121908233 |
1000 genomes | rs121908233 |
hgdp | rs121908233 |
ensembl | rs121908233 |
geneview | rs121908233 |
scholar | rs121908233 |
rs121908233 | |
pharmgkb | rs121908233 |
gwascentral | rs121908233 |
openSNP | rs121908233 |
23andMe | rs121908233 |
SNPshot | rs121908233 |
SNPdbe | rs121908233 |
MSV3d | rs121908233 |
GWAS Ctlg | rs121908233 |
Merged from | Rs121909317 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908233(C;C) |
Alt | rs121908233(C;C) |
Reference | Rs121908233(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.13368288A>G |
CLNSRC | OMIM Allelic Variant UniProtKB (variants) |
CLNACC | RCV000009021.4, |
[PMID 15173248] Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2.