rs777630688
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs777630688(-;-) |
Make rs777630688(-;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | 13 |
Position | 49552182 |
Gene | RCBTB1 |
is a | snp |
is | mentioned by |
dbSNP | rs777630688 |
dbSNP (classic) | rs777630688 |
ClinGen | rs777630688 |
ebi | rs777630688 |
HLI | rs777630688 |
Exac | rs777630688 |
Gnomad | rs777630688 |
Varsome | rs777630688 |
LitVar | rs777630688 |
Map | rs777630688 |
PheGenI | rs777630688 |
Biobank | rs777630688 |
1000 genomes | rs777630688 |
hgdp | rs777630688 |
ensembl | rs777630688 |
geneview | rs777630688 |
scholar | rs777630688 |
rs777630688 | |
pharmgkb | rs777630688 |
gwascentral | rs777630688 |
openSNP | rs777630688 |
23andMe | rs777630688 |
SNPshot | rs777630688 |
SNPdbe | rs777630688 |
MSV3d | rs777630688 |
GWAS Ctlg | rs777630688 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs777630688(-;-) |
Alt | rs777630688(-;-) |
Reference | Rs777630688(T;T) |
Significance | Probable-Pathogenic |
Disease | Exudative retinopathy |
Variation | info |
Gene | RCBTB1 |
CLNDBN | Exudative retinopathy |
Reversed | 0 |
HGVS | NC_000013.10:g.50126318delT |
CLNSRC | |
CLNACC | RCV000210228.1, |