rs61753174
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs61753174(C;T) |
Make rs61753174(T;T) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | X |
Position | 18642105 |
Gene | CDKL5, RS1 |
is a | snp |
is | mentioned by |
dbSNP | rs61753174 |
dbSNP (classic) | rs61753174 |
ClinGen | rs61753174 |
ebi | rs61753174 |
HLI | rs61753174 |
Exac | rs61753174 |
Gnomad | rs61753174 |
Varsome | rs61753174 |
LitVar | rs61753174 |
Map | rs61753174 |
PheGenI | rs61753174 |
Biobank | rs61753174 |
1000 genomes | rs61753174 |
hgdp | rs61753174 |
ensembl | rs61753174 |
geneview | rs61753174 |
scholar | rs61753174 |
rs61753174 | |
pharmgkb | rs61753174 |
gwascentral | rs61753174 |
openSNP | rs61753174 |
23andMe | rs61753174 |
SNPshot | rs61753174 |
SNPdbe | rs61753174 |
MSV3d | rs61753174 |
GWAS Ctlg | rs61753174 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs61753174(A;A) rs61753174(T;T) |
Alt | rs61753174(A;A) rs61753174(T;T) |
Reference | Rs61753174(C;C) |
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.18660225G>A; NC_000023.10:g.18660225G>T |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000085331.1, RCV000169568.1, RCV000085330.1, |