rs775796581
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(GGAGTCTG;GGAGTCTG) | 0 | common in clinvar |
Make rs775796581(-;-) |
Make rs775796581(-;GGAGTCTG) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 8 |
Position | 86666951 |
Gene | CNGB3 |
is a | snp |
is | mentioned by |
dbSNP | rs775796581 |
dbSNP (classic) | rs775796581 |
ClinGen | rs775796581 |
ebi | rs775796581 |
HLI | rs775796581 |
Exac | rs775796581 |
Gnomad | rs775796581 |
Varsome | rs775796581 |
LitVar | rs775796581 |
Map | rs775796581 |
PheGenI | rs775796581 |
Biobank | rs775796581 |
1000 genomes | rs775796581 |
hgdp | rs775796581 |
ensembl | rs775796581 |
geneview | rs775796581 |
scholar | rs775796581 |
rs775796581 | |
pharmgkb | rs775796581 |
gwascentral | rs775796581 |
openSNP | rs775796581 |
23andMe | rs775796581 |
SNPshot | rs775796581 |
SNPdbe | rs775796581 |
MSV3d | rs775796581 |
GWAS Ctlg | rs775796581 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs775796581(-;-) |
Alt | rs775796581(-;-) |
Reference | Rs775796581(GGAGTCTG;GGAGTCTG) |
Significance | Pathogenic |
Disease | Abnormal electroretinogram Nystagmus |
Variation | info |
Gene | CNGB3 |
CLNDBN | Abnormal electroretinogram Nystagmus |
Reversed | 0 |
HGVS | NC_000008.10:g.87679179_87679186delGGAGTCTG |
CLNSRC | |
CLNACC | RCV000415035.1, |