rs62645894
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs62645894(C;C) |
Make rs62645894(C;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 18647309 |
Gene | CDKL5, RS1 |
is a | snp |
is | mentioned by |
dbSNP | rs62645894 |
dbSNP (classic) | rs62645894 |
ClinGen | rs62645894 |
ebi | rs62645894 |
HLI | rs62645894 |
Exac | rs62645894 |
Gnomad | rs62645894 |
Varsome | rs62645894 |
LitVar | rs62645894 |
Map | rs62645894 |
PheGenI | rs62645894 |
Biobank | rs62645894 |
1000 genomes | rs62645894 |
hgdp | rs62645894 |
ensembl | rs62645894 |
geneview | rs62645894 |
scholar | rs62645894 |
rs62645894 | |
pharmgkb | rs62645894 |
gwascentral | rs62645894 |
openSNP | rs62645894 |
23andMe | rs62645894 |
SNPshot | rs62645894 |
SNPdbe | rs62645894 |
MSV3d | rs62645894 |
GWAS Ctlg | rs62645894 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs62645894(A;A) rs62645894(C;C) |
Alt | rs62645894(A;A) rs62645894(C;C) |
Reference | Rs62645894(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | CDKL5 RS1 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.18665429C>G; NC_000023.10:g.18665429C>T |
CLNSRC | |
CLNACC | RCV000085247.1, RCV000412918.1, |