rs557939077
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs557939077(A;A) |
Make rs557939077(A;G) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 41970494 |
Gene | ATP1A3 |
is a | snp |
is | mentioned by |
dbSNP | rs557939077 |
dbSNP (classic) | rs557939077 |
ClinGen | rs557939077 |
ebi | rs557939077 |
HLI | rs557939077 |
Exac | rs557939077 |
Gnomad | rs557939077 |
Varsome | rs557939077 |
LitVar | rs557939077 |
Map | rs557939077 |
PheGenI | rs557939077 |
Biobank | rs557939077 |
1000 genomes | rs557939077 |
hgdp | rs557939077 |
ensembl | rs557939077 |
geneview | rs557939077 |
scholar | rs557939077 |
rs557939077 | |
pharmgkb | rs557939077 |
gwascentral | rs557939077 |
openSNP | rs557939077 |
23andMe | rs557939077 |
SNPshot | rs557939077 |
SNPdbe | rs557939077 |
MSV3d | rs557939077 |
GWAS Ctlg | rs557939077 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs557939077(A;A) rs557939077(T;T) |
Alt | rs557939077(A;A) rs557939077(T;T) |
Reference | Rs557939077(G;G) |
Significance | Pathogenic |
Disease | Alternating hemiplegia of childhood 2 |
Variation | info |
Gene | ATP1A3 |
CLNDBN | Alternating hemiplegia of childhood 2 |
Reversed | 0 |
HGVS | NC_000019.9:g.42474646G>T |
CLNSRC | ClinVar |
CLNACC | RCV000148317.1, |