rs745557293
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs745557293(-;-) |
Make rs745557293(-;A) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 8 |
Position | 86578855 |
Gene | CNGB3 |
is a | snp |
is | mentioned by |
dbSNP | rs745557293 |
dbSNP (classic) | rs745557293 |
ClinGen | rs745557293 |
ebi | rs745557293 |
HLI | rs745557293 |
Exac | rs745557293 |
Gnomad | rs745557293 |
Varsome | rs745557293 |
LitVar | rs745557293 |
Map | rs745557293 |
PheGenI | rs745557293 |
Biobank | rs745557293 |
1000 genomes | rs745557293 |
hgdp | rs745557293 |
ensembl | rs745557293 |
geneview | rs745557293 |
scholar | rs745557293 |
rs745557293 | |
pharmgkb | rs745557293 |
gwascentral | rs745557293 |
openSNP | rs745557293 |
23andMe | rs745557293 |
SNPshot | rs745557293 |
SNPdbe | rs745557293 |
MSV3d | rs745557293 |
GWAS Ctlg | rs745557293 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs745557293(-;-) |
Alt | rs745557293(-;-) |
Reference | Rs745557293(A;A) |
Significance | Probable-Pathogenic |
Disease | Achromatopsia 3 |
Variation | info |
Gene | CNGB3 |
CLNDBN | Achromatopsia 3 |
Reversed | 0 |
HGVS | NC_000008.10:g.87591083delA |
CLNSRC | |
CLNACC | RCV000409769.1, |