rs765483163
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs765483163(-;-) |
Make rs765483163(-;CT) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 12 |
Position | 88089283 |
Gene | CEP290 |
is a | snp |
is | mentioned by |
dbSNP | rs765483163 |
dbSNP (classic) | rs765483163 |
ClinGen | rs765483163 |
ebi | rs765483163 |
HLI | rs765483163 |
Exac | rs765483163 |
Gnomad | rs765483163 |
Varsome | rs765483163 |
LitVar | rs765483163 |
Map | rs765483163 |
PheGenI | rs765483163 |
Biobank | rs765483163 |
1000 genomes | rs765483163 |
hgdp | rs765483163 |
ensembl | rs765483163 |
geneview | rs765483163 |
scholar | rs765483163 |
rs765483163 | |
pharmgkb | rs765483163 |
gwascentral | rs765483163 |
openSNP | rs765483163 |
23andMe | rs765483163 |
SNPshot | rs765483163 |
SNPdbe | rs765483163 |
MSV3d | rs765483163 |
GWAS Ctlg | rs765483163 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs765483163(-;-) |
Alt | rs765483163(-;-) |
Reference | Rs765483163(CT;CT) |
Significance | Probable-Pathogenic |
Disease | not provided |
Variation | info |
Gene | CEP290 |
CLNDBN | not provided |
Reversed | 0 |
HGVS | NC_000012.11:g.88483060_88483061delCT |
CLNSRC | |
CLNACC | RCV000171469.1, |