rs587783121
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(-;-) | 0 | common in clinvar |
Make rs587783121(-;A) |
Make rs587783121(A;A) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 18613253 |
Gene | CDKL5 |
is a | snp |
is | mentioned by |
dbSNP | rs587783121 |
dbSNP (classic) | rs587783121 |
ClinGen | rs587783121 |
ebi | rs587783121 |
HLI | rs587783121 |
Exac | rs587783121 |
Gnomad | rs587783121 |
Varsome | rs587783121 |
LitVar | rs587783121 |
Map | rs587783121 |
PheGenI | rs587783121 |
Biobank | rs587783121 |
1000 genomes | rs587783121 |
hgdp | rs587783121 |
ensembl | rs587783121 |
geneview | rs587783121 |
scholar | rs587783121 |
rs587783121 | |
pharmgkb | rs587783121 |
gwascentral | rs587783121 |
openSNP | rs587783121 |
23andMe | rs587783121 |
SNPshot | rs587783121 |
SNPdbe | rs587783121 |
MSV3d | rs587783121 |
GWAS Ctlg | rs587783121 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783121(A;A) |
Alt | rs587783121(A;A) |
Reference | Rs587783121(-;-) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | CDKL5 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000023.10:g.18631373dupA |
CLNSRC | |
CLNACC | RCV000144792.1, |