rs61752148
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AGAT;AGAT) | 0 | common in clinvar |
Make rs61752148(-;-) |
Make rs61752148(-;AGAT) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 18644574 |
Gene | CDKL5, RS1 |
is a | snp |
is | mentioned by |
dbSNP | rs61752148 |
dbSNP (classic) | rs61752148 |
ClinGen | rs61752148 |
ebi | rs61752148 |
HLI | rs61752148 |
Exac | rs61752148 |
Gnomad | rs61752148 |
Varsome | rs61752148 |
LitVar | rs61752148 |
Map | rs61752148 |
PheGenI | rs61752148 |
Biobank | rs61752148 |
1000 genomes | rs61752148 |
hgdp | rs61752148 |
ensembl | rs61752148 |
geneview | rs61752148 |
scholar | rs61752148 |
rs61752148 | |
pharmgkb | rs61752148 |
gwascentral | rs61752148 |
openSNP | rs61752148 |
23andMe | rs61752148 |
SNPshot | rs61752148 |
SNPdbe | rs61752148 |
MSV3d | rs61752148 |
GWAS Ctlg | rs61752148 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61752148(-;-) |
Alt | rs61752148(-;-) |
Reference | Rs61752148(AGAT;AGAT) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | CDKL5 RS1 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.18662694_18662697delATCT |
CLNSRC | |
CLNACC | RCV000085288.1, |