rs376711003
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs376711003(G;T) |
Make rs376711003(T;T) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 8 |
Position | 86743617 |
Gene | CNGB3 |
is a | snp |
is | mentioned by |
dbSNP | rs376711003 |
dbSNP (classic) | rs376711003 |
ClinGen | rs376711003 |
ebi | rs376711003 |
HLI | rs376711003 |
Exac | rs376711003 |
Gnomad | rs376711003 |
Varsome | rs376711003 |
LitVar | rs376711003 |
Map | rs376711003 |
PheGenI | rs376711003 |
Biobank | rs376711003 |
1000 genomes | rs376711003 |
hgdp | rs376711003 |
ensembl | rs376711003 |
geneview | rs376711003 |
scholar | rs376711003 |
rs376711003 | |
pharmgkb | rs376711003 |
gwascentral | rs376711003 |
openSNP | rs376711003 |
23andMe | rs376711003 |
SNPshot | rs376711003 |
SNPdbe | rs376711003 |
MSV3d | rs376711003 |
GWAS Ctlg | rs376711003 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs376711003(A;A) rs376711003(T;T) |
Alt | rs376711003(A;A) rs376711003(T;T) |
Reference | Rs376711003(G;G) |
Significance | Probable-Pathogenic |
Disease | Achromatopsia 3 |
Variation | info |
Gene | CNGB3 |
CLNDBN | Achromatopsia 3 |
Reversed | 0 |
HGVS | NC_000008.10:g.87755845G>T |
CLNSRC | |
CLNACC | RCV000411455.1, |