rs147118493
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs147118493(A;A) |
Make rs147118493(A;G) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 2 |
Position | 98370077 |
Gene | CNGA3 |
is a | snp |
is | mentioned by |
dbSNP | rs147118493 |
dbSNP (classic) | rs147118493 |
ClinGen | rs147118493 |
ebi | rs147118493 |
HLI | rs147118493 |
Exac | rs147118493 |
Gnomad | rs147118493 |
Varsome | rs147118493 |
LitVar | rs147118493 |
Map | rs147118493 |
PheGenI | rs147118493 |
Biobank | rs147118493 |
1000 genomes | rs147118493 |
hgdp | rs147118493 |
ensembl | rs147118493 |
geneview | rs147118493 |
scholar | rs147118493 |
rs147118493 | |
pharmgkb | rs147118493 |
gwascentral | rs147118493 |
openSNP | rs147118493 |
23andMe | rs147118493 |
SNPshot | rs147118493 |
SNPdbe | rs147118493 |
MSV3d | rs147118493 |
GWAS Ctlg | rs147118493 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs147118493(A;A) |
Alt | rs147118493(A;A) |
Reference | Rs147118493(G;G) |
Significance | Pathogenic |
Disease | Achromatopsia 2 not provided |
Variation | info |
Gene | CNGA3 |
CLNDBN | Achromatopsia 2 not provided |
Reversed | 0 |
HGVS | NC_000002.11:g.98986540G>A |
CLNSRC | |
CLNACC | RCV000190571.1, RCV000323992.1, |