rs61752060
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs61752060(A;G) |
Make rs61752060(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | X |
Position | 18647251 |
Gene | CDKL5, RS1 |
is a | snp |
is | mentioned by |
dbSNP | rs61752060 |
dbSNP (classic) | rs61752060 |
ClinGen | rs61752060 |
ebi | rs61752060 |
HLI | rs61752060 |
Exac | rs61752060 |
Gnomad | rs61752060 |
Varsome | rs61752060 |
LitVar | rs61752060 |
Map | rs61752060 |
PheGenI | rs61752060 |
Biobank | rs61752060 |
1000 genomes | rs61752060 |
hgdp | rs61752060 |
ensembl | rs61752060 |
geneview | rs61752060 |
scholar | rs61752060 |
rs61752060 | |
pharmgkb | rs61752060 |
gwascentral | rs61752060 |
openSNP | rs61752060 |
23andMe | rs61752060 |
SNPshot | rs61752060 |
SNPdbe | rs61752060 |
MSV3d | rs61752060 |
GWAS Ctlg | rs61752060 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61752060(G;G) |
Alt | rs61752060(G;G) |
Reference | Rs61752060(A;A) |
Significance | Probable-Pathogenic |
Disease | not provided Juvenile retinoschisis |
Variation | info |
Gene | CDKL5 RS1 |
CLNDBN | not provided Juvenile retinoschisis |
Reversed | 1 |
HGVS | NC_000023.10:g.18665371T>C |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000085259.1, RCV000410595.1, |