rs863224523
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(AA;AA) | 0 | common in clinvar |
Make rs863224523(-;-) |
Make rs863224523(-;AA) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 88086416 |
Gene | CEP290 |
is a | snp |
is | mentioned by |
dbSNP | rs863224523 |
dbSNP (classic) | rs863224523 |
ClinGen | rs863224523 |
ebi | rs863224523 |
HLI | rs863224523 |
Exac | rs863224523 |
Gnomad | rs863224523 |
Varsome | rs863224523 |
LitVar | rs863224523 |
Map | rs863224523 |
PheGenI | rs863224523 |
Biobank | rs863224523 |
1000 genomes | rs863224523 |
hgdp | rs863224523 |
ensembl | rs863224523 |
geneview | rs863224523 |
scholar | rs863224523 |
rs863224523 | |
pharmgkb | rs863224523 |
gwascentral | rs863224523 |
openSNP | rs863224523 |
23andMe | rs863224523 |
SNPshot | rs863224523 |
SNPdbe | rs863224523 |
MSV3d | rs863224523 |
GWAS Ctlg | rs863224523 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs863224523(-;-) |
Alt | rs863224523(-;-) |
Reference | Rs863224523(AA;AA) |
Significance | Pathogenic |
Disease | Joubert syndrome |
Variation | info |
Gene | CEP290 |
CLNDBN | Joubert syndrome |
Reversed | 1 |
HGVS | NC_000012.11:g.88480193_88480194delTT |
CLNSRC | |
CLNACC | RCV000196701.1, |