rs13265557
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0.1 | rare variation in a gene influencing color perception |
(T;T) | 0 | common in complete genomics |
Make rs13265557(C;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 86647872 |
Gene | CNGB3 |
is a | snp |
is | mentioned by |
dbSNP | rs13265557 |
dbSNP (classic) | rs13265557 |
ClinGen | rs13265557 |
ebi | rs13265557 |
HLI | rs13265557 |
Exac | rs13265557 |
Gnomad | rs13265557 |
Varsome | rs13265557 |
LitVar | rs13265557 |
Map | rs13265557 |
PheGenI | rs13265557 |
Biobank | rs13265557 |
1000 genomes | rs13265557 |
hgdp | rs13265557 |
ensembl | rs13265557 |
geneview | rs13265557 |
scholar | rs13265557 |
rs13265557 | |
pharmgkb | rs13265557 |
gwascentral | rs13265557 |
openSNP | rs13265557 |
23andMe | rs13265557 |
SNPshot | rs13265557 |
SNPdbe | rs13265557 |
MSV3d | rs13265557 |
GWAS Ctlg | rs13265557 |
GMAF | 0.05739 |
Max Magnitude | 0.1 |
? | (C;C) (C;T) (T;T) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | Rs13265557(C;C) |
Alt | Rs13265557(C;C) |
Reference | Rs13265557(T;T) |
Significance | Probable-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.87660100T>C |
CLNSRC | |
CLNACC | RCV000242961.2, RCV000286399.1, RCV000376272.1, |