rs1085307470
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Chromosome | X |
Position | 18575466 |
Gene | CDKL5 |
is a | snp |
is | mentioned by |
dbSNP | rs1085307470 |
dbSNP (classic) | rs1085307470 |
ClinGen | rs1085307470 |
ebi | rs1085307470 |
HLI | rs1085307470 |
Exac | rs1085307470 |
Gnomad | rs1085307470 |
Varsome | rs1085307470 |
LitVar | rs1085307470 |
Map | rs1085307470 |
PheGenI | rs1085307470 |
Biobank | rs1085307470 |
1000 genomes | rs1085307470 |
hgdp | rs1085307470 |
ensembl | rs1085307470 |
geneview | rs1085307470 |
scholar | rs1085307470 |
rs1085307470 | |
pharmgkb | rs1085307470 |
gwascentral | rs1085307470 |
openSNP | rs1085307470 |
23andMe | rs1085307470 |
SNPshot | rs1085307470 |
SNPdbe | rs1085307470 |
MSV3d | rs1085307470 |
GWAS Ctlg | rs1085307470 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs1085307470(G;G) |
Alt | rs1085307470(G;G) |
Reference | Rs1085307470(C;C) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | CDKL5 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.18593586C>G |
CLNSRC | |
CLNACC | RCV000488952.1, |