rs6471482
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 1.5 | |
(C;C) | 0 | common on affy axiom data |
Make rs6471482(A;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 8 |
Position | 86667075 |
Gene | CNGB3 |
is a | snp |
is | mentioned by |
dbSNP | rs6471482 |
dbSNP (classic) | rs6471482 |
ClinGen | rs6471482 |
ebi | rs6471482 |
HLI | rs6471482 |
Exac | rs6471482 |
Gnomad | rs6471482 |
Varsome | rs6471482 |
LitVar | rs6471482 |
Map | rs6471482 |
PheGenI | rs6471482 |
Biobank | rs6471482 |
1000 genomes | rs6471482 |
hgdp | rs6471482 |
ensembl | rs6471482 |
geneview | rs6471482 |
scholar | rs6471482 |
rs6471482 | |
pharmgkb | rs6471482 |
gwascentral | rs6471482 |
openSNP | rs6471482 |
23andMe | rs6471482 |
SNPshot | rs6471482 |
SNPdbe | rs6471482 |
MSV3d | rs6471482 |
GWAS Ctlg | rs6471482 |
GMAF | 0.06841 |
Max Magnitude | 1.5 |
? | (A;A) (A;C) (C;C) | 28 |
---|---|---|
|
ClinVar | |
---|---|
Risk | Rs6471482(C;C) |
Alt | Rs6471482(C;C) |
Reference | Rs6471482(A;A) |
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.87679303A>C |
CLNSRC | |
CLNACC | RCV000250693.1, RCV000310169.1, RCV000364988.1, |