rs797044858
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs797044858(A;A) |
Make rs797044858(A;G) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 18584313 |
Gene | CDKL5 |
is a | snp |
is | mentioned by |
dbSNP | rs797044858 |
dbSNP (classic) | rs797044858 |
ClinGen | rs797044858 |
ebi | rs797044858 |
HLI | rs797044858 |
Exac | rs797044858 |
Gnomad | rs797044858 |
Varsome | rs797044858 |
LitVar | rs797044858 |
Map | rs797044858 |
PheGenI | rs797044858 |
Biobank | rs797044858 |
1000 genomes | rs797044858 |
hgdp | rs797044858 |
ensembl | rs797044858 |
geneview | rs797044858 |
scholar | rs797044858 |
rs797044858 | |
pharmgkb | rs797044858 |
gwascentral | rs797044858 |
openSNP | rs797044858 |
23andMe | rs797044858 |
SNPshot | rs797044858 |
SNPdbe | rs797044858 |
MSV3d | rs797044858 |
GWAS Ctlg | rs797044858 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs797044858(A;A) |
Alt | rs797044858(A;A) |
Reference | Rs797044858(G;G) |
Significance | Pathogenic |
Disease | Inborn genetic diseases |
Variation | info |
Gene | CDKL5 |
CLNDBN | Inborn genetic diseases |
Reversed | 0 |
HGVS | NC_000023.10:g.18602433G>A |
CLNSRC | |
CLNACC | RCV000190660.1, |