rs137852619
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;G) | 5.8 | Episodic ataxia, type 6 |
Make rs137852619(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 5 |
Position | 36679635 |
Gene | SLC1A3 |
is a | snp |
is | mentioned by |
dbSNP | rs137852619 |
dbSNP (classic) | rs137852619 |
ClinGen | rs137852619 |
ebi | rs137852619 |
HLI | rs137852619 |
Exac | rs137852619 |
Gnomad | rs137852619 |
Varsome | rs137852619 |
LitVar | rs137852619 |
Map | rs137852619 |
PheGenI | rs137852619 |
Biobank | rs137852619 |
1000 genomes | rs137852619 |
hgdp | rs137852619 |
ensembl | rs137852619 |
geneview | rs137852619 |
scholar | rs137852619 |
rs137852619 | |
pharmgkb | rs137852619 |
gwascentral | rs137852619 |
openSNP | rs137852619 |
23andMe | rs137852619 |
SNPshot | rs137852619 |
SNPdbe | rs137852619 |
MSV3d | rs137852619 |
GWAS Ctlg | rs137852619 |
Max Magnitude | 5.8 |
aka c.869C>G (p.Pro290Arg or P290R)
Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant episodic ataxia, type 6
See also OMIM 600111.0001
ClinVar | |
---|---|
Risk | rs137852619(G;G) |
Alt | rs137852619(G;G) |
Reference | Rs137852619(C;C) |
Significance | Pathogenic |
Disease | Episodic ataxia |
Variation | info |
Gene | SLC1A3 |
CLNDBN | Episodic ataxia, type 6 |
Reversed | 0 |
HGVS | NC_000005.9:g.36679737C>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000010048.6, |