rs564759960
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs564759960(C;C) |
Make rs564759960(C;T) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 8 |
Position | 86632879 |
Gene | CNGB3 |
is a | snp |
is | mentioned by |
dbSNP | rs564759960 |
dbSNP (classic) | rs564759960 |
ClinGen | rs564759960 |
ebi | rs564759960 |
HLI | rs564759960 |
Exac | rs564759960 |
Gnomad | rs564759960 |
Varsome | rs564759960 |
LitVar | rs564759960 |
Map | rs564759960 |
PheGenI | rs564759960 |
Biobank | rs564759960 |
1000 genomes | rs564759960 |
hgdp | rs564759960 |
ensembl | rs564759960 |
geneview | rs564759960 |
scholar | rs564759960 |
rs564759960 | |
pharmgkb | rs564759960 |
gwascentral | rs564759960 |
openSNP | rs564759960 |
23andMe | rs564759960 |
SNPshot | rs564759960 |
SNPdbe | rs564759960 |
MSV3d | rs564759960 |
GWAS Ctlg | rs564759960 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs564759960(C;C) |
Alt | rs564759960(C;C) |
Reference | Rs564759960(T;T) |
Significance | Pathogenic |
Disease | Stargardt disease 1 |
Variation | info |
Gene | CNGB3 |
CLNDBN | Stargardt disease 1 |
Reversed | 0 |
HGVS | NC_000008.10:g.87645107T>C |
CLNSRC | |
CLNACC | RCV000195502.1, |