rs768345097
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs768345097(A;A) |
Make rs768345097(A;G) |
Reference | GRCh38.p2 38.2/144 |
Chromosome | 8 |
Position | 86667131 |
Gene | CNGB3 |
is a | snp |
is | mentioned by |
dbSNP | rs768345097 |
dbSNP (classic) | rs768345097 |
ClinGen | rs768345097 |
ebi | rs768345097 |
HLI | rs768345097 |
Exac | rs768345097 |
Gnomad | rs768345097 |
Varsome | rs768345097 |
LitVar | rs768345097 |
Map | rs768345097 |
PheGenI | rs768345097 |
Biobank | rs768345097 |
1000 genomes | rs768345097 |
hgdp | rs768345097 |
ensembl | rs768345097 |
geneview | rs768345097 |
scholar | rs768345097 |
rs768345097 | |
pharmgkb | rs768345097 |
gwascentral | rs768345097 |
openSNP | rs768345097 |
23andMe | rs768345097 |
SNPshot | rs768345097 |
SNPdbe | rs768345097 |
MSV3d | rs768345097 |
GWAS Ctlg | rs768345097 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs768345097(A;A) |
Alt | rs768345097(A;A) |
Reference | Rs768345097(G;G) |
Significance | Probable-Pathogenic |
Disease | Achromatopsia 3 |
Variation | info |
Gene | CNGB3 |
CLNDBN | Achromatopsia 3 |
Reversed | 0 |
HGVS | NC_000008.10:g.87679359G>A |
CLNSRC | |
CLNACC | RCV000169194.1, |