rs267608420
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs267608420(-;G) |
Make rs267608420(G;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 18510820 |
Gene | CDKL5 |
is a | snp |
is | mentioned by |
dbSNP | rs267608420 |
dbSNP (classic) | rs267608420 |
ClinGen | rs267608420 |
ebi | rs267608420 |
HLI | rs267608420 |
Exac | rs267608420 |
Gnomad | rs267608420 |
Varsome | rs267608420 |
LitVar | rs267608420 |
Map | rs267608420 |
PheGenI | rs267608420 |
Biobank | rs267608420 |
1000 genomes | rs267608420 |
hgdp | rs267608420 |
ensembl | rs267608420 |
geneview | rs267608420 |
scholar | rs267608420 |
rs267608420 | |
pharmgkb | rs267608420 |
gwascentral | rs267608420 |
openSNP | rs267608420 |
23andMe | rs267608420 |
SNPshot | rs267608420 |
SNPdbe | rs267608420 |
MSV3d | rs267608420 |
GWAS Ctlg | rs267608420 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267608420(G;G) |
Alt | rs267608420(G;G) |
Reference | Rs267608420(-;-) |
Significance | Pathogenic |
Disease | not provided Early infantile epileptic encephalopathy 2 |
Variation | info |
Gene | CDKL5 |
CLNDBN | not provided Early infantile epileptic encephalopathy 2 |
Reversed | 0 |
HGVS | NC_000023.10:g.18528940dupG |
CLNSRC | |
CLNACC | RCV000133382.1, RCV000193845.1, |