rs606231446
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs606231446(A;A) |
Make rs606231446(A;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 41967719 |
Gene | ATP1A3 |
is a | snp |
is | mentioned by |
dbSNP | rs606231446 |
dbSNP (classic) | rs606231446 |
ClinGen | rs606231446 |
ebi | rs606231446 |
HLI | rs606231446 |
Exac | rs606231446 |
Gnomad | rs606231446 |
Varsome | rs606231446 |
LitVar | rs606231446 |
Map | rs606231446 |
PheGenI | rs606231446 |
Biobank | rs606231446 |
1000 genomes | rs606231446 |
hgdp | rs606231446 |
ensembl | rs606231446 |
geneview | rs606231446 |
scholar | rs606231446 |
rs606231446 | |
pharmgkb | rs606231446 |
gwascentral | rs606231446 |
openSNP | rs606231446 |
23andMe | rs606231446 |
SNPshot | rs606231446 |
SNPdbe | rs606231446 |
MSV3d | rs606231446 |
GWAS Ctlg | rs606231446 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231446(A;A) |
Alt | rs606231446(A;A) |
Reference | Rs606231446(C;C) |
Significance | Pathogenic |
Disease | Alternating hemiplegia of childhood 2 |
Variation | info |
Gene | ATP1A3 |
CLNDBN | Alternating hemiplegia of childhood 2 |
Reversed | 1 |
HGVS | NC_000019.9:g.42471871G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000148333.1, |