rs1064796503
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(AGCAGTTCTGGAACCAACCACTCAAAAAGACAACC;AGCAGTTCTGGAACCAACCACTCAAAAAGACAACC) | 0 | common in clinvar |
Chromosome | X |
Position | 18613230 |
Gene | CDKL5 |
is a | snp |
is | mentioned by |
dbSNP | rs1064796503 |
dbSNP (classic) | rs1064796503 |
ClinGen | rs1064796503 |
ebi | rs1064796503 |
HLI | rs1064796503 |
Exac | rs1064796503 |
Gnomad | rs1064796503 |
Varsome | rs1064796503 |
LitVar | rs1064796503 |
Map | rs1064796503 |
PheGenI | rs1064796503 |
Biobank | rs1064796503 |
1000 genomes | rs1064796503 |
hgdp | rs1064796503 |
ensembl | rs1064796503 |
geneview | rs1064796503 |
scholar | rs1064796503 |
rs1064796503 | |
pharmgkb | rs1064796503 |
gwascentral | rs1064796503 |
openSNP | rs1064796503 |
23andMe | rs1064796503 |
SNPshot | rs1064796503 |
SNPdbe | rs1064796503 |
MSV3d | rs1064796503 |
GWAS Ctlg | rs1064796503 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1064796503(-;-) |
Alt | rs1064796503(-;-) |
Reference | Rs1064796503(AGCAGTTCTGGAACCAACCACTCAAAAAGACAACC;AGCAGTTCTGGAACCAACCACTCAAAAAGACAACC) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | CDKL5 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.18631350_18631384del35 |
CLNSRC | |
CLNACC | RCV000486131.1, |