rs587783192
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587783192(-;-) |
Make rs587783192(-;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 25004815 |
Gene | ARX |
is a | snp |
is | mentioned by |
dbSNP | rs587783192 |
dbSNP (classic) | rs587783192 |
ClinGen | rs587783192 |
ebi | rs587783192 |
HLI | rs587783192 |
Exac | rs587783192 |
Gnomad | rs587783192 |
Varsome | rs587783192 |
LitVar | rs587783192 |
Map | rs587783192 |
PheGenI | rs587783192 |
Biobank | rs587783192 |
1000 genomes | rs587783192 |
hgdp | rs587783192 |
ensembl | rs587783192 |
geneview | rs587783192 |
scholar | rs587783192 |
rs587783192 | |
pharmgkb | rs587783192 |
gwascentral | rs587783192 |
openSNP | rs587783192 |
23andMe | rs587783192 |
SNPshot | rs587783192 |
SNPdbe | rs587783192 |
MSV3d | rs587783192 |
GWAS Ctlg | rs587783192 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783192(-;-) |
Alt | rs587783192(-;-) |
Reference | Rs587783192(G;G) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | ARX |
CLNDBN | epileptic encephalopathy, early infanitle, 1 |
Reversed | 1 |
HGVS | NC_000023.10:g.25022932delC |
CLNSRC | |
CLNACC | RCV000145048.1, |