rs587783009
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs587783009(A;A) |
Make rs587783009(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 88118482 |
Gene | CEP290 |
is a | snp |
is | mentioned by |
dbSNP | rs587783009 |
dbSNP (classic) | rs587783009 |
ClinGen | rs587783009 |
ebi | rs587783009 |
HLI | rs587783009 |
Exac | rs587783009 |
Gnomad | rs587783009 |
Varsome | rs587783009 |
LitVar | rs587783009 |
Map | rs587783009 |
PheGenI | rs587783009 |
Biobank | rs587783009 |
1000 genomes | rs587783009 |
hgdp | rs587783009 |
ensembl | rs587783009 |
geneview | rs587783009 |
scholar | rs587783009 |
rs587783009 | |
pharmgkb | rs587783009 |
gwascentral | rs587783009 |
openSNP | rs587783009 |
23andMe | rs587783009 |
SNPshot | rs587783009 |
SNPdbe | rs587783009 |
MSV3d | rs587783009 |
GWAS Ctlg | rs587783009 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs587783009(A;A) |
Alt | rs587783009(A;A) |
Reference | Rs587783009(G;G) |
Significance | Pathogenic |
Disease | Leber congenital amaurosis 10 |
Variation | info |
Gene | CEP290 |
CLNDBN | Leber congenital amaurosis 10 |
Reversed | 1 |
HGVS | NC_000012.11:g.88512259C>T |
CLNSRC | |
CLNACC | RCV000144459.1, |