rs875989950
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs875989950(A;A) |
Make rs875989950(A;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 18575381 |
Gene | CDKL5 |
is a | snp |
is | mentioned by |
dbSNP | rs875989950 |
dbSNP (classic) | rs875989950 |
ClinGen | rs875989950 |
ebi | rs875989950 |
HLI | rs875989950 |
Exac | rs875989950 |
Gnomad | rs875989950 |
Varsome | rs875989950 |
LitVar | rs875989950 |
Map | rs875989950 |
PheGenI | rs875989950 |
Biobank | rs875989950 |
1000 genomes | rs875989950 |
hgdp | rs875989950 |
ensembl | rs875989950 |
geneview | rs875989950 |
scholar | rs875989950 |
rs875989950 | |
pharmgkb | rs875989950 |
gwascentral | rs875989950 |
openSNP | rs875989950 |
23andMe | rs875989950 |
SNPshot | rs875989950 |
SNPdbe | rs875989950 |
MSV3d | rs875989950 |
GWAS Ctlg | rs875989950 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs875989950(A;A) |
Alt | rs875989950(A;A) |
Reference | Rs875989950(T;T) |
Significance | Pathogenic |
Disease | Early infantile epileptic encephalopathy 2 |
Variation | info |
Gene | CDKL5 |
CLNDBN | Early infantile epileptic encephalopathy 2 |
Reversed | 0 |
HGVS | NC_000023.10:g.18593501T>A |
CLNSRC | |
CLNACC | RCV000211584.1, |