rs4961206
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs4961206(G;G) |
Make rs4961206(G;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 86654023 |
Gene | CNGB3 |
is a | snp |
is | mentioned by |
dbSNP | rs4961206 |
dbSNP (classic) | rs4961206 |
ClinGen | rs4961206 |
ebi | rs4961206 |
HLI | rs4961206 |
Exac | rs4961206 |
Gnomad | rs4961206 |
Varsome | rs4961206 |
LitVar | rs4961206 |
Map | rs4961206 |
PheGenI | rs4961206 |
Biobank | rs4961206 |
1000 genomes | rs4961206 |
hgdp | rs4961206 |
ensembl | rs4961206 |
geneview | rs4961206 |
scholar | rs4961206 |
rs4961206 | |
pharmgkb | rs4961206 |
gwascentral | rs4961206 |
openSNP | rs4961206 |
23andMe | rs4961206 |
SNPshot | rs4961206 |
SNPdbe | rs4961206 |
MSV3d | rs4961206 |
GWAS Ctlg | rs4961206 |
GMAF | 0.3421 |
Max Magnitude | 0 |
? | (G;G) (G;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | rs4961206(A;A) rs4961206(G;G) |
Alt | rs4961206(A;A) rs4961206(G;G) |
Reference | Rs4961206(T;T) |
Significance | Non-pathogenic |
Disease | not specified Achromatopsia Stargardt Disease |
Variation | info |
Gene | CNGB3 |
CLNDBN | not specified Achromatopsia Stargardt Disease, Recessive |
Reversed | 0 |
HGVS | NC_000008.10:g.87666251T>G |
CLNSRC | UniProtKB (protein) |
CLNACC | RCV000081979.5, RCV000337843.1, RCV000373837.1, |