rs606231443
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GTC;GTC) | 0 | common in clinvar |
Make rs606231443(-;-) |
Make rs606231443(-;GTC) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 19 |
Position | 41968847 |
Gene | ATP1A3 |
is a | snp |
is | mentioned by |
dbSNP | rs606231443 |
dbSNP (classic) | rs606231443 |
ClinGen | rs606231443 |
ebi | rs606231443 |
HLI | rs606231443 |
Exac | rs606231443 |
Gnomad | rs606231443 |
Varsome | rs606231443 |
LitVar | rs606231443 |
Map | rs606231443 |
PheGenI | rs606231443 |
Biobank | rs606231443 |
1000 genomes | rs606231443 |
hgdp | rs606231443 |
ensembl | rs606231443 |
geneview | rs606231443 |
scholar | rs606231443 |
rs606231443 | |
pharmgkb | rs606231443 |
gwascentral | rs606231443 |
openSNP | rs606231443 |
23andMe | rs606231443 |
SNPshot | rs606231443 |
SNPdbe | rs606231443 |
MSV3d | rs606231443 |
GWAS Ctlg | rs606231443 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs606231443(-;-) |
Alt | rs606231443(-;-) |
Reference | Rs606231443(GTC;GTC) |
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.42472999_42473001delGAC |
CLNSRC | |
CLNACC | RCV000148328.1, |