rs536681257
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs536681257(A;T) |
Make rs536681257(T;T) |
Reference | GRCh38 38.1/142 |
Chromosome | 19 |
Position | 41970298 |
Gene | ATP1A3 |
is a | snp |
is | mentioned by |
dbSNP | rs536681257 |
dbSNP (classic) | rs536681257 |
ClinGen | rs536681257 |
ebi | rs536681257 |
HLI | rs536681257 |
Exac | rs536681257 |
Gnomad | rs536681257 |
Varsome | rs536681257 |
LitVar | rs536681257 |
Map | rs536681257 |
PheGenI | rs536681257 |
Biobank | rs536681257 |
1000 genomes | rs536681257 |
hgdp | rs536681257 |
ensembl | rs536681257 |
geneview | rs536681257 |
scholar | rs536681257 |
rs536681257 | |
pharmgkb | rs536681257 |
gwascentral | rs536681257 |
openSNP | rs536681257 |
23andMe | rs536681257 |
SNPshot | rs536681257 |
SNPdbe | rs536681257 |
MSV3d | rs536681257 |
GWAS Ctlg | rs536681257 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs536681257(C;C) rs536681257(T;T) |
Alt | rs536681257(C;C) rs536681257(T;T) |
Reference | Rs536681257(A;A) |
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.42474450A>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000148325.1, |