rs773372519
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs773372519(A;C) |
Make rs773372519(C;C) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 8 |
Position | 86644689 |
Gene | CNGB3 |
is a | snp |
is | mentioned by |
dbSNP | rs773372519 |
dbSNP (classic) | rs773372519 |
ClinGen | rs773372519 |
ebi | rs773372519 |
HLI | rs773372519 |
Exac | rs773372519 |
Gnomad | rs773372519 |
Varsome | rs773372519 |
LitVar | rs773372519 |
Map | rs773372519 |
PheGenI | rs773372519 |
Biobank | rs773372519 |
1000 genomes | rs773372519 |
hgdp | rs773372519 |
ensembl | rs773372519 |
geneview | rs773372519 |
scholar | rs773372519 |
rs773372519 | |
pharmgkb | rs773372519 |
gwascentral | rs773372519 |
openSNP | rs773372519 |
23andMe | rs773372519 |
SNPshot | rs773372519 |
SNPdbe | rs773372519 |
MSV3d | rs773372519 |
GWAS Ctlg | rs773372519 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs773372519(C;C) rs773372519(G;G) |
Alt | rs773372519(C;C) rs773372519(G;G) |
Reference | Rs773372519(A;A) |
Significance | Probable-Pathogenic |
Disease | Achromatopsia 3 |
Variation | info |
Gene | CNGB3 |
CLNDBN | Achromatopsia 3 |
Reversed | 0 |
HGVS | NC_000008.10:g.87656917A>C |
CLNSRC | |
CLNACC | RCV000169173.1, |