rs587783200
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587783200(G;T) |
Make rs587783200(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 25015704 |
Gene | ARX |
is a | snp |
is | mentioned by |
dbSNP | rs587783200 |
dbSNP (classic) | rs587783200 |
ClinGen | rs587783200 |
ebi | rs587783200 |
HLI | rs587783200 |
Exac | rs587783200 |
Gnomad | rs587783200 |
Varsome | rs587783200 |
LitVar | rs587783200 |
Map | rs587783200 |
PheGenI | rs587783200 |
Biobank | rs587783200 |
1000 genomes | rs587783200 |
hgdp | rs587783200 |
ensembl | rs587783200 |
geneview | rs587783200 |
scholar | rs587783200 |
rs587783200 | |
pharmgkb | rs587783200 |
gwascentral | rs587783200 |
openSNP | rs587783200 |
23andMe | rs587783200 |
SNPshot | rs587783200 |
SNPdbe | rs587783200 |
MSV3d | rs587783200 |
GWAS Ctlg | rs587783200 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783200(C;C) rs587783200(T;T) |
Alt | rs587783200(C;C) rs587783200(T;T) |
Reference | Rs587783200(G;G) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | ARX |
CLNDBN | epileptic encephalopathy, early infanitle, 1 |
Reversed | 1 |
HGVS | NC_000023.10:g.25033821C>A |
CLNSRC | |
CLNACC | RCV000145056.1, |