rs869312662
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(GTTCAC;GTTCAC) | 0 | common in clinvar |
Make rs869312662(GTTCAC;TGTACCA) |
Make rs869312662(TGTACCA;TGTACCA) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 25012988 |
Gene | ARX |
is a | snp |
is | mentioned by |
dbSNP | rs869312662 |
dbSNP (classic) | rs869312662 |
ClinGen | rs869312662 |
ebi | rs869312662 |
HLI | rs869312662 |
Exac | rs869312662 |
Gnomad | rs869312662 |
Varsome | rs869312662 |
LitVar | rs869312662 |
Map | rs869312662 |
PheGenI | rs869312662 |
Biobank | rs869312662 |
1000 genomes | rs869312662 |
hgdp | rs869312662 |
ensembl | rs869312662 |
geneview | rs869312662 |
scholar | rs869312662 |
rs869312662 | |
pharmgkb | rs869312662 |
gwascentral | rs869312662 |
openSNP | rs869312662 |
23andMe | rs869312662 |
SNPshot | rs869312662 |
SNPdbe | rs869312662 |
MSV3d | rs869312662 |
GWAS Ctlg | rs869312662 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs869312662(TGTACCA;TGTACCA) |
Alt | rs869312662(TGTACCA;TGTACCA) |
Reference | Rs869312662(GTTCAC;GTTCAC) |
Significance | Pathogenic |
Disease | Epileptic encephalopathy |
Variation | info |
Gene | ARX |
CLNDBN | Epileptic encephalopathy, early infantile, 1 |
Reversed | 1 |
HGVS | NC_000023.10:g.25031105_25031110delGTGAACinsTGGTACA |
CLNSRC | |
CLNACC | RCV000209847.1, |