rs786205620
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs786205620(-;-) |
Make rs786205620(-;A) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 12 |
Position | 88093889 |
Gene | CEP290 |
is a | snp |
is | mentioned by |
dbSNP | rs786205620 |
dbSNP (classic) | rs786205620 |
ClinGen | rs786205620 |
ebi | rs786205620 |
HLI | rs786205620 |
Exac | rs786205620 |
Gnomad | rs786205620 |
Varsome | rs786205620 |
LitVar | rs786205620 |
Map | rs786205620 |
PheGenI | rs786205620 |
Biobank | rs786205620 |
1000 genomes | rs786205620 |
hgdp | rs786205620 |
ensembl | rs786205620 |
geneview | rs786205620 |
scholar | rs786205620 |
rs786205620 | |
pharmgkb | rs786205620 |
gwascentral | rs786205620 |
openSNP | rs786205620 |
23andMe | rs786205620 |
SNPshot | rs786205620 |
SNPdbe | rs786205620 |
MSV3d | rs786205620 |
GWAS Ctlg | rs786205620 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs786205620(-;-) |
Alt | rs786205620(-;-) |
Reference | Rs786205620(A;A) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | CEP290 |
CLNDBN | not provided |
Reversed | 1 |
HGVS | NC_000012.11:g.88487666delT |
CLNSRC | |
CLNACC | RCV000171470.1, |