rs113994118
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs113994118(G;G) |
Make rs113994118(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 4912619 |
Gene | KCNA1 |
is a | snp |
is | mentioned by |
dbSNP | rs113994118 |
dbSNP (classic) | rs113994118 |
ClinGen | rs113994118 |
ebi | rs113994118 |
HLI | rs113994118 |
Exac | rs113994118 |
Gnomad | rs113994118 |
Varsome | rs113994118 |
LitVar | rs113994118 |
Map | rs113994118 |
PheGenI | rs113994118 |
Biobank | rs113994118 |
1000 genomes | rs113994118 |
hgdp | rs113994118 |
ensembl | rs113994118 |
geneview | rs113994118 |
scholar | rs113994118 |
rs113994118 | |
pharmgkb | rs113994118 |
gwascentral | rs113994118 |
openSNP | rs113994118 |
23andMe | rs113994118 |
SNPshot | rs113994118 |
SNPdbe | rs113994118 |
MSV3d | rs113994118 |
GWAS Ctlg | rs113994118 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs113994118(G;G) |
Alt | rs113994118(G;G) |
Reference | Rs113994118(T;T) |
Significance | Pathogenic |
Disease | Episodic ataxia type 1 |
Variation | info |
Gene | KCNA1 |
CLNDBN | Episodic ataxia type 1 |
Reversed | 0 |
HGVS | NC_000012.11:g.5021785T>G |
CLNSRC | ClinVar GeneReviews |
CLNACC | RCV000020218.1, |