rs281865358
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs281865358(A;A) |
Make rs281865358(A;G) |
Reference | GRCh38.p7 38.3/149 |
Chromosome | X |
Position | 18642080 |
Gene | CDKL5, RS1 |
is a | snp |
is | mentioned by |
dbSNP | rs281865358 |
dbSNP (classic) | rs281865358 |
ClinGen | rs281865358 |
ebi | rs281865358 |
HLI | rs281865358 |
Exac | rs281865358 |
Gnomad | rs281865358 |
Varsome | rs281865358 |
LitVar | rs281865358 |
Map | rs281865358 |
PheGenI | rs281865358 |
Biobank | rs281865358 |
1000 genomes | rs281865358 |
hgdp | rs281865358 |
ensembl | rs281865358 |
geneview | rs281865358 |
scholar | rs281865358 |
rs281865358 | |
pharmgkb | rs281865358 |
gwascentral | rs281865358 |
openSNP | rs281865358 |
23andMe | rs281865358 |
SNPshot | rs281865358 |
SNPdbe | rs281865358 |
MSV3d | rs281865358 |
GWAS Ctlg | rs281865358 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs281865358(A;A) |
Alt | rs281865358(A;A) |
Reference | Rs281865358(G;G) |
Significance | Pathogenic |
Disease | not provided |
Variation | info |
Gene | CDKL5 RS1 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.18660200C>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000085342.2, |