rs201794629
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs201794629(C;G) |
Make rs201794629(G;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 86667134 |
Gene | CNGB3 |
is a | snp |
is | mentioned by |
dbSNP | rs201794629 |
dbSNP (classic) | rs201794629 |
ClinGen | rs201794629 |
ebi | rs201794629 |
HLI | rs201794629 |
Exac | rs201794629 |
Gnomad | rs201794629 |
Varsome | rs201794629 |
LitVar | rs201794629 |
Map | rs201794629 |
PheGenI | rs201794629 |
Biobank | rs201794629 |
1000 genomes | rs201794629 |
hgdp | rs201794629 |
ensembl | rs201794629 |
geneview | rs201794629 |
scholar | rs201794629 |
rs201794629 | |
pharmgkb | rs201794629 |
gwascentral | rs201794629 |
openSNP | rs201794629 |
23andMe | rs201794629 |
SNPshot | rs201794629 |
SNPdbe | rs201794629 |
MSV3d | rs201794629 |
GWAS Ctlg | rs201794629 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs201794629(G;G) |
Alt | rs201794629(G;G) |
Reference | Rs201794629(C;C) |
Significance | Probable-Pathogenic |
Disease | Achromatopsia 3 |
Variation | info |
Gene | CNGB3 |
CLNDBN | Achromatopsia 3 |
Reversed | 0 |
HGVS | NC_000008.10:g.87679362C>G |
CLNSRC | |
CLNACC | RCV000169108.1, |