rs794726959
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs794726959(A;A) |
Make rs794726959(A;C) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 25015708 |
Gene | ARX |
is a | snp |
is | mentioned by |
dbSNP | rs794726959 |
dbSNP (classic) | rs794726959 |
ClinGen | rs794726959 |
ebi | rs794726959 |
HLI | rs794726959 |
Exac | rs794726959 |
Gnomad | rs794726959 |
Varsome | rs794726959 |
LitVar | rs794726959 |
Map | rs794726959 |
PheGenI | rs794726959 |
Biobank | rs794726959 |
1000 genomes | rs794726959 |
hgdp | rs794726959 |
ensembl | rs794726959 |
geneview | rs794726959 |
scholar | rs794726959 |
rs794726959 | |
pharmgkb | rs794726959 |
gwascentral | rs794726959 |
openSNP | rs794726959 |
23andMe | rs794726959 |
SNPshot | rs794726959 |
SNPdbe | rs794726959 |
MSV3d | rs794726959 |
GWAS Ctlg | rs794726959 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs794726959(A;A) |
Alt | rs794726959(A;A) |
Reference | Rs794726959(C;C) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | ARX |
CLNDBN | Epileptic encephalopathy, early infantile, 1 |
Reversed | 1 |
HGVS | NC_000023.10:g.25033825G>T |
CLNSRC | |
CLNACC | RCV000173566.1, |